FANCC
FA complementation group C
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]
Known Variants1,371 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs945363629 | 9:97,861,425 | G/A | — | uncertain significance |
| rs9673 | 9:97,861,437 | A/G | — | benign |
| rs1057515696 | 9:97,861,461 | T/C | — | uncertain significance |
| rs56199232 | 9:97,861,465 | C/T | — | uncertain significance |
| rs1354689137 | 9:97,861,587 | C/G | — | uncertain significance |
| rs1042363957 | 9:97,861,681 | C/T | — | uncertain significance |
| rs562465438 | 9:97,861,684 | C/T | — | uncertain significance |
| rs561975553 | 9:97,861,693 | C/T | — | uncertain significance |
| rs562841213 | 9:97,861,718 | C/T | — | likely benign |
| rs1367873898 | 9:97,861,743 | C/A | — | uncertain significance |
| rs566582636 | 9:97,861,825 | C/A | — | uncertain significance |
| rs567507884 | 9:97,861,861 | G/A | — | uncertain significance |
| rs4647559 | 9:97,861,904 | G/T | — | benign |
| rs539833295 | 9:97,861,937 | C/G | — | uncertain significance |
| rs752733985 | 9:97,862,013 | G/A | — | uncertain significance |
| rs114827984 | 9:97,862,021 | C/T | — | benign |
| rs756111303 | 9:97,862,088 | G/A | — | uncertain significance |
| rs56161090 | 9:97,862,094 | A/C | — | uncertain significance |
| rs192262179 | 9:97,862,110 | G/A | — | likely benign |
| rs4647558 | 9:97,862,118 | C/T | — | benign |
| rs4647557 | 9:97,862,262 | A/G | — | uncertain significance |
| rs183099416 | 9:97,862,314 | T/C | — | uncertain significance |
| rs4647556 | 9:97,862,327 | G/A | — | benign |
| rs560444013 | 9:97,862,340 | T/C | — | uncertain significance |
| rs541816451 | 9:97,862,473 | T/C | — | likely benign |
| rs2071028910 | 9:97,862,474 | G/A | — | uncertain significance |
| rs41281198 | 9:97,862,494 | A/C | — | uncertain significance |
| rs552548603 | 9:97,862,506 | A/G | — | uncertain significance |
| rs780382671 | 9:97,862,521 | G/A | — | uncertain significance |
| rs55901384 | 9:97,862,610 | G/C | — | uncertain significance |
| rs1009336483 | 9:97,862,630 | G/C | — | uncertain significance |
| rs144155068 | 9:97,862,650 | G/A | — | uncertain significance |
| rs191983554 | 9:97,862,657 | T/C | — | uncertain significance |
| rs4647554 | 9:97,862,701 | A/G | — | benign |
| rs1057515698 | 9:97,862,713 | G/T | — | uncertain significance |
| rs45520432 | 9:97,862,727 | A/G | — | likely benign |
| rs1026341216 | 9:97,862,792 | T/C | — | uncertain significance |
| rs111688138 | 9:97,862,893 | A/G | — | uncertain significance |
| rs1044866059 | 9:97,862,930 | T/A | — | uncertain significance |
| rs537983135 | 9:97,862,944 | G/A | — | uncertain significance |
| rs556229977 | 9:97,862,961 | G/A | — | uncertain significance |
| rs3780559 | 9:97,863,005 | C/T | — | uncertain significance |
| rs56059656 | 9:97,863,006 | G/A | — | uncertain significance |
| rs1038927110 | 9:97,863,105 | G/A | — | uncertain significance |
| rs1057515700 | 9:97,863,164 | G/T | — | uncertain significance |
| rs150462386 | 9:97,863,322 | G/A | — | uncertain significance |
| rs114612660 | 9:97,863,329 | G/A | — | likely benign |
| rs561885351 | 9:97,863,396 | G/C | — | likely benign |
| rs190544450 | 9:97,863,402 | G/A | — | likely benign |
| rs1303539766 | 9:97,863,412 | C/T | — | uncertain significance |
| rs1057515701 | 9:97,863,413 | G/A | — | uncertain significance |
| rs1004604171 | 9:97,863,473 | A/C | — | uncertain significance |
| rs548064261 | 9:97,863,506 | T/C | — | uncertain significance |
| rs756786451 | 9:97,863,513 | T/A | — | uncertain significance |
| rs149227790 | 9:97,863,539 | C/T | — | uncertain significance |
| rs550009657 | 9:97,863,558 | A/G | — | uncertain significance |
| rs4647551 | 9:97,863,630 | T/C | — | benign |
| rs920400068 | 9:97,863,651 | G/T | — | uncertain significance |
| rs769817519 | 9:97,863,722 | C/T | — | uncertain significance |
| rs773331481 | 9:97,863,735 | C/T | — | uncertain significance |
| rs193261247 | 9:97,863,739 | C/T | — | likely benign |
| rs1046795121 | 9:97,863,740 | G/A | — | uncertain significance |
| rs184733418 | 9:97,863,776 | A/C | — | likely benign |
| rs189154697 | 9:97,863,846 | T/C | — | uncertain significance |
| rs7048910 | 9:97,863,873 | T/G | — | benign |
| rs55687573 | 9:97,863,893 | T/C | — | conflicting classifications of pathogenicity |
| rs7029888 | 9:97,863,947 | C/T | — | benign |
| rs760413505 | 9:97,863,975 | G/A | — | conflicting classifications of pathogenicity |
| rs1015228314 | 9:97,863,979 | T/G | — | likely benign |
| rs370270817 | 9:97,863,980 | G/A | — | likely benign |
| rs753428914 | 9:97,863,981 | C/T | — | conflicting classifications of pathogenicity |
| rs372511678 | 9:97,863,982 | G/A | — | conflicting classifications of pathogenicity |
| rs117175949 | 9:97,863,984 | G/A | — | likely benign |
| rs758866109 | 9:97,863,994 | C/A | — | uncertain significance |
| rs1351542759 | 9:97,863,996 | T/C | — | uncertain significance |
| rs863224610 | 9:97,863,997 | G/C | — | uncertain significance |
| rs2540749102 | 9:97,863,998 | A/G | — | likely benign |
| rs369636116 | 9:97,864,002 | C/T | — | uncertain significance |
| rs370974124 | 9:97,864,003 | G/A | stop gained | pathogenic |
| rs2540749137 | 9:97,864,004 | C/T | — | likely benign |
| rs104886458 | 9:97,864,005 | A/G | missense variant | pathogenic |
| rs769743634 | 9:97,864,006 | G/A | — | conflicting classifications of pathogenicity |
| rs2540749196 | 9:97,864,008 | T/A | — | uncertain significance |
| rs2540749256 | 9:97,864,010 | T/C | — | likely benign |
| rs1197938479 | 9:97,864,011 | T/C | — | conflicting classifications of pathogenicity |
| rs2071082816 | 9:97,864,012 | T/G | — | uncertain significance |
| rs2540749300 | 9:97,864,014 | A/T | — | uncertain significance |
| rs2071083119 | 9:97,864,021 | C/G | — | uncertain significance |
| rs730881729 | 9:97,864,023 | C/T | — | uncertain significance |
| rs104886457 | 9:97,864,024 | G/A | stop gained | pathogenic |
| rs2071083482 | 9:97,864,026 | G/A | — | uncertain significance |
| rs2540749459 | 9:97,864,027 | C/A | — | uncertain significance |
| rs1429537932 | 9:97,864,028 | C/T | — | likely benign |
| rs2071083777 | 9:97,864,030 | G/C | — | uncertain significance |
| rs571668582 | 9:97,864,032 | T/C | — | conflicting classifications of pathogenicity |
| rs1064793496 | 9:97,864,033 | T/C | — | uncertain significance |
| rs2540749568 | 9:97,864,035 | T/C | — | uncertain significance |
| rs1352980665 | 9:97,864,037 | T/C | — | likely benign |
| rs867319477 | 9:97,864,038 | G/T | stop gained | pathogenic |
| rs1303872874 | 9:97,864,039 | A/G | — | uncertain significance |
Showing 100 of 1,371 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.