ClinVar

NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)

Gene:

DCHS1:dachsous cadherin-related 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6633485 (on Assembly GRCh38)
• Chr11: 6654716 (on Assembly GRCh37)

Preferred name:

NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)

HGVS:

• NC_000011.10:g.6633485C>G
• NG_033858.2:g.27365G>C
• NM_003737.4:c.2382G>CMANE SELECT
• NP_003728.1:p.Gln794His
• NC_000011.9:g.6654716C>G
• NG_033858.1:g.27365G>C
• NM_003737.2:c.2382G>C
• NM_003737.3:c.2382G>C
• p.Q794H

This HGVS expression did not pass validation

Protein change:

Q794H

Links:

dbSNP: rs369091875

NCBI 1000 Genomes Browser:

rs369091875

Molecular consequence:

• NM_003737.4:c.2382G>C - missense variant - [Sequence Ontology: SO:0001583]