ClinVar

NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77189373 (on Assembly GRCh38)
• Chr11: 76900418 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro)

HGVS:

• NC_000011.10:g.77189373A>C
• NG_009086.2:g.66128A>C
• NM_000260.4:c.3533A>CMANE SELECT
• NM_001127180.2:c.3533A>C
• NM_001369365.1:c.3500A>C
• NP_000251.3:p.Gln1178Pro
• NP_001120652.1:p.Gln1178Pro
• NP_001356294.1:p.Gln1167Pro
• LRG_1420t1:c.3533A>C
• LRG_1420:g.66128A>C
• LRG_1420p1:p.Gln1178Pro
• NC_000011.9:g.76900418A>C
• NG_009086.1:g.66109A>C
• NM_000260.3:c.3533A>C
• c.3533A>C

This HGVS expression did not pass validation

Protein change:

Q1167P

Links:

dbSNP: rs111033482

NCBI 1000 Genomes Browser:

rs111033482

Molecular consequence:

• NM_000260.4:c.3533A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.3533A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.3500A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1