ClinVar

NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)

Gene:

ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 68925651 (on Assembly GRCh38)
• Chr14: 69392368 (on Assembly GRCh37)

Preferred name:

NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)

HGVS:

• NC_000014.9:g.68925651A>T
• NG_029480.1:g.58716T>A
• NM_001102.4:c.127T>A
• NM_001130004.2:c.127T>AMANE SELECT
• NM_001130005.2:c.127T>A
• NP_001093.1:p.Ser43Thr
• NP_001123476.1:p.Ser43Thr
• NP_001123477.1:p.Ser43Thr
• LRG_886:g.58716T>A
• NC_000014.8:g.69392368A>T

This HGVS expression did not pass validation

Protein change:

S43T

Links:

dbSNP: rs769375482

NCBI 1000 Genomes Browser:

rs769375482

Molecular consequence:

• NM_001102.4:c.127T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130004.2:c.127T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130005.2:c.127T>A - missense variant - [Sequence Ontology: SO:0001583]