TCHHL1
trichohyalin like 1
Summary
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2526627673 | 1:152,057,458 | G/C | — | uncertain significance |
| rs770315483 | 1:152,057,483 | C/T | — | uncertain significance |
| rs1271551862 | 1:152,057,503 | T/A | — | uncertain significance |
| rs376845053 | 1:152,057,546 | C/T | — | likely benign |
| rs781043402 | 1:152,057,606 | T/C | — | uncertain significance |
| rs778208087 | 1:152,057,625 | C/G | — | uncertain significance |
| rs188281782 | 1:152,057,751 | G/T | — | uncertain significance |
| rs745936882 | 1:152,057,753 | T/C | — | uncertain significance |
| rs79690779 | 1:152,057,793 | A/G | — | benign |
| rs376654912 | 1:152,057,828 | C/T | — | uncertain significance |
| rs140803281 | 1:152,057,914 | A/G | — | likely benign |
| rs41266084 | 1:152,058,144 | T/C | — | uncertain significance |
| rs774597573 | 1:152,058,153 | C/G | — | uncertain significance |
| rs191248783 | 1:152,058,182 | G/T | — | uncertain significance |
| rs375684500 | 1:152,058,210 | T/C | — | uncertain significance |
| rs41266086 | 1:152,058,213 | G/C | — | uncertain significance |
| rs542201601 | 1:152,058,264 | C/G | — | uncertain significance |
| rs2526631948 | 1:152,058,290 | T/C | — | uncertain significance |
| rs149878459 | 1:152,058,398 | C/T | — | uncertain significance |
| rs1185590311 | 1:152,058,524 | C/G | — | uncertain significance |
| rs145269084 | 1:152,058,563 | C/T | — | likely benign |
| rs751967583 | 1:152,058,629 | A/G | — | uncertain significance |
| rs768279573 | 1:152,058,693 | C/T | — | uncertain significance |
| rs1480954939 | 1:152,058,713 | T/C | — | likely benign |
| rs542560544 | 1:152,058,717 | C/A | — | uncertain significance |
| rs1393957290 | 1:152,058,771 | C/G | — | uncertain significance |
| rs758572009 | 1:152,058,953 | G/A | — | uncertain significance |
| rs535818124 | 1:152,058,972 | C/A | — | uncertain significance |
| rs751729124 | 1:152,059,059 | A/G | — | uncertain significance |
| rs752906029 | 1:152,059,184 | T/C | — | uncertain significance |
| rs2526635680 | 1:152,059,193 | G/T | — | uncertain significance |
| rs61749316 | 1:152,059,278 | G/A | — | benign |
| rs2526636335 | 1:152,059,367 | G/A | — | uncertain significance |
| rs931850384 | 1:152,059,445 | G/T | — | uncertain significance |
| rs115754547 | 1:152,059,552 | A/G | — | likely benign |
| rs16833835 | 1:152,059,580 | G/C | — | benign |
| rs145646463 | 1:152,059,641 | A/G | — | uncertain significance |
| rs77167778 | 1:152,059,659 | T/A | — | benign |
| rs764848876 | 1:152,059,680 | A/T | — | uncertain significance |
| rs749468932 | 1:152,059,728 | G/A | — | uncertain significance |
| rs995034392 | 1:152,059,916 | A/G | — | uncertain significance |
| rs374776843 | 1:152,059,938 | C/A | — | uncertain significance |
| rs367938735 | 1:152,059,945 | A/C | — | uncertain significance |
| rs775058312 | 1:152,060,502 | C/T | — | uncertain significance |
| rs371784696 | 1:152,060,537 | A/G | — | uncertain significance |
| rs750381422 | 1:152,060,556 | C/A | — | uncertain significance |
| rs1363686239 | 1:152,060,585 | A/G | — | uncertain significance |
| rs17646946 | 1:152,062,767 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.