ClinVar

NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174772 (on Assembly GRCh38)
• Chr11: 76885818 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)

HGVS:

• NC_000011.10:g.77174772T>C
• NG_009086.2:g.51527T>C
• NM_000260.4:c.1952T>CMANE SELECT
• NM_001127180.2:c.1952T>C
• NM_001369365.1:c.1919T>C
• NP_000251.3:p.Leu651Pro
• NP_000251.3:p.Leu651Pro
• NP_001120652.1:p.Leu651Pro
• NP_001356294.1:p.Leu640Pro
• LRG_1420t1:c.1952T>C
• LRG_1420:g.51527T>C
• LRG_1420p1:p.Leu651Pro
• NC_000011.9:g.76885818T>C
• NG_009086.1:g.51509T>C
• NM_000260.3:c.1952T>C
• Q13402:p.Leu651Pro

This HGVS expression did not pass validation

Protein change:

L640P

Links:

UniProtKB: Q13402#VAR_009331; dbSNP: rs876657416

NCBI 1000 Genomes Browser:

rs876657416

Molecular consequence:

• NM_000260.4:c.1952T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1952T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]