NM_000193.4(SHH):c.331A>T (p.Ile111Phe)
|
SNV Germline |
Chr7:155806527 |
Pathogenic |
Solitary median maxillary central incisor syndrome |
No Assertion Criteria Provided |
CA119987 |
rs_104894049 |
1 SubmittersRCV000009440 |
NM_000193.4(SHH):c.995T>C (p.Val332Ala)
|
SNV Germline |
Chr7:155803294 |
Pathogenic |
Solitary median maxillary central incisor syndrome |
No Assertion Criteria Provided |
CA119988 |
rs_104894052 |
1 SubmittersRCV000009444 |
NM_000193.4(SHH):c.383G>A (p.Trp128Ter)
|
SNV Germline |
Chr7:155806475 |
Pathogenic |
Holoprosencephaly 3 Solitary median maxillary central incisor syndrome Condition: not provided |
Criteria Provided Single Submitter |
CA119989 |
rs_104894053 |
2 SubmittersRCV000009445RCV000009446RCV000263828 |