ClinVar

NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77201616 (on Assembly GRCh38)
• Chr11: 76912661 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)

HGVS:

• NC_000011.10:g.77201616C>A
• NG_009086.2:g.78371C>A
• NM_000260.4:c.5021C>AMANE SELECT
• NM_001127180.2:c.4907C>A
• NM_001369365.1:c.4874C>A
• NP_000251.3:p.Thr1674Asn
• NP_001120652.1:p.Thr1636Asn
• NP_001356294.1:p.Thr1625Asn
• LRG_1420t1:c.5021C>A
• LRG_1420:g.78371C>A
• LRG_1420p1:p.Thr1674Asn
• NC_000011.9:g.76912661C>A
• NG_009086.1:g.78352C>A

This HGVS expression did not pass validation

Protein change:

T1625N

Links:

dbSNP: rs766461538

NCBI 1000 Genomes Browser:

rs766461538

Molecular consequence:

• NM_000260.4:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.4907C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.4874C>A - missense variant - [Sequence Ontology: SO:0001583]