ClinVar

NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)

Genes:

GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34793316 (on Assembly GRCh38)
• Chr15: 35085517 (on Assembly GRCh37)

Preferred name:

NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)

HGVS:

• NC_000015.10:g.34793316G>A
• NG_007553.1:g.7411C>T
• NM_005159.5:c.383C>TMANE SELECT
• NP_005150.1:p.Thr128Ile
• LRG_388t1:c.383C>T
• LRG_388:g.7411C>T
• NC_000015.9:g.35085517G>A
• NM_005159.4:c.383C>T

This HGVS expression did not pass validation

Protein change:

T128I

Links:

dbSNP: rs727504308

NCBI 1000 Genomes Browser:

rs727504308

Molecular consequence:

• NM_005159.5:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1