ClinVar

NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77162298 (on Assembly GRCh38)
• Chr11: 76873344 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro)

HGVS:

• NC_000011.10:g.77162298T>C
• NG_009086.2:g.39053T>C
• NM_000260.4:c.1522T>CMANE SELECT
• NM_001127180.2:c.1522T>C
• NM_001369365.1:c.1489T>C
• NP_000251.3:p.Ser508Pro
• NP_001120652.1:p.Ser508Pro
• NP_001356294.1:p.Ser497Pro
• LRG_1420t1:c.1522T>C
• LRG_1420:g.39053T>C
• LRG_1420p1:p.Ser508Pro
• NC_000011.9:g.76873344T>C
• NG_009086.1:g.39035T>C
• NM_000260.3:c.1522T>C

This HGVS expression did not pass validation

Protein change:

S497P

Links:

dbSNP: rs1953075862

NCBI 1000 Genomes Browser:

rs1953075862

Molecular consequence:

• NM_000260.4:c.1522T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1522T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1489T>C - missense variant - [Sequence Ontology: SO:0001583]