ClinVar

NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77192200 (on Assembly GRCh38)
• Chr11: 76903245 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)

Other names:

p.S1358S:TCC>TCT

HGVS:

• NC_000011.10:g.77192200C>T
• NG_009086.2:g.68955C>T
• NM_000260.4:c.4074C>TMANE SELECT
• NM_001127180.2:c.4074C>T
• NM_001369365.1:c.4041C>T
• NP_000251.3:p.Ser1358=
• NP_001120652.1:p.Ser1358=
• NP_001356294.1:p.Ser1347=
• LRG_1420t1:c.4074C>T
• LRG_1420:g.68955C>T
• LRG_1420p1:p.Ser1358=
• NC_000011.9:g.76903245C>T
• NG_009086.1:g.68936C>T
• NM_000260.3:c.4074C>T
• c.4074C>T
• p.Ser1358Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs78996818

NCBI 1000 Genomes Browser:

rs78996818

Molecular consequence:

• NM_000260.4:c.4074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.4074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.4041C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

5