ClinVar

NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)

Gene:

ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38704994 (on Assembly GRCh38)
• Chr19: 39195634 (on Assembly GRCh37)

Preferred name:

NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)

HGVS:

• NC_000019.10:g.38704994T>C
• NG_007082.2:g.62308T>C
• NM_001322033.2:c.458T>C
• NM_004924.6:c.458T>CMANE SELECT
• NP_001308962.1:p.Phe153Ser
• NP_004915.2:p.Phe153Ser
• NC_000019.9:g.39195634T>C
• NM_004924.4:c.458T>C

This HGVS expression did not pass validation

Protein change:

F153S

Links:

dbSNP: rs1568723797

NCBI 1000 Genomes Browser:

rs1568723797

Molecular consequence:

• NM_001322033.2:c.458T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004924.6:c.458T>C - missense variant - [Sequence Ontology: SO:0001583]