SERPINA7
serpin family A member 7
Summary
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7883218 | X:105,276,609 | A/T | — | — |
| rs199754692 | X:105,277,495 | G/A | — | likely benign |
| rs61730548 | X:105,277,497 | T/G | — | benign |
| rs1197067490 | X:105,277,536 | C/A | — | uncertain significance |
| rs1057524273 | X:105,277,551 | C/A | — | uncertain significance |
| rs143311397 | X:105,277,576 | T/C | — | uncertain significance |
| rs146242514 | X:105,277,589 | T/C | — | conflicting classifications of pathogenicity |
| rs72554658 | X:105,277,591 | G/A | missense variant | association |
| rs587776719 | X:105,277,625 | — | — | association |
| rs778707647 | X:105,277,637 | G/A | — | uncertain significance |
| rs2520869912 | X:105,277,666 | C/T | — | uncertain significance |
| rs149192322 | X:105,277,684 | T/A | — | benign |
| rs72554659 | X:105,277,688 | G/A | missense variant | association |
| rs763283543 | X:105,277,702 | G/A | — | likely benign |
| rs587776722 | X:105,278,221 | C/T | — | association |
| rs151001785 | X:105,278,254 | G/A | — | uncertain significance |
| rs61754490 | X:105,278,284 | T/A | missense variant | pathogenic |
| rs1804495 | X:105,278,361 | C/A | missense variant | pathogenic |
| rs121909496 | X:105,278,371 | C/T | stop gained | association |
| rs375380232 | X:105,279,118 | C/T | — | uncertain significance |
| rs202100037 | X:105,279,136 | G/A | — | uncertain significance |
| rs1277486282 | X:105,279,210 | C/G | — | uncertain significance |
| rs28937312 | X:105,279,259 | A/G | missense variant | association |
| rs72554660 | X:105,279,272 | G/T | — | likely benign |
| rs895405073 | X:105,279,299 | G/T | — | uncertain significance |
| rs2234036 | X:105,279,368 | C/T | missense variant | pathogenic |
| rs587776720 | X:105,279,378 | T/C | splice region variant | association |
| rs1050086 | X:105,280,479 | C/T | missense variant | pathogenic |
| rs757513301 | X:105,280,529 | T/G | — | uncertain significance |
| rs185176881 | X:105,280,593 | G/A | — | uncertain significance |
| rs745595256 | X:105,280,620 | C/A | — | uncertain significance |
| rs28933688 | X:105,280,653 | C/G | missense variant | association |
| rs28933689 | X:105,280,703 | A/T | missense variant | pathogenic |
| rs766869659 | X:105,280,843 | G/T | — | benign |
| rs587776721 | X:105,280,876 | — | — | association |
| rs2520887528 | X:105,280,896 | T/C | — | uncertain significance |
| rs1467059264 | X:105,281,001 | T/C | — | uncertain significance |
| rs61737031 | X:105,281,028 | C/A | — | benign |
| rs189795441 | X:105,282,697 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.