Partial Androgen Insensitivity Syndrome
An X-linked dominant mode(s) within the Endocrine disorders category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000044.6(AR):c.1768+2T>C | Single nucleotide variant | ChrX:67643409 | Pathogenic/Likely pathogenic | Splice donor variant|intron variant | rs1555982894 |
.GenePathDx, GenePath diagnostics |
| NM_000044.6(AR):c.1174C>T (p.Pro392Ser) | Single nucleotide variant | ChrX:67546320 | Conflicting classifications of pathogenicity | Missense variant|5 prime UTR variant | rs201934623 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000044.6(AR):c.2599G>A (p.Val867Met) | Single nucleotide variant | ChrX:67722976 | Pathogenic | Missense variant | rs137852564 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution