ClinVar

NM_004924.6(ACTN4):c.306G>T (p.Gly102=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38701030 (on Assembly GRCh38)
• Chr19: 39191670 (on Assembly GRCh37)

Preferred name:

NM_004924.6(ACTN4):c.306G>T (p.Gly102=)

HGVS:

• NC_000019.10:g.38701030G>T
• NG_007082.2:g.58344G>T
• NM_001322033.2:c.306G>T
• NM_004924.6:c.306G>TMANE SELECT
• NP_001308962.1:p.Gly102=
• NP_004915.2:p.Gly102=
• NC_000019.9:g.39191670G>T
• NC_000019.9:g.39191670G>T
• NM_004924.5:c.306G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs776245124

NCBI 1000 Genomes Browser:

rs776245124

Molecular consequence:

• NM_001322033.2:c.306G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004924.6:c.306G>T - synonymous variant - [Sequence Ontology: SO:0001819]