ClinVar

NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 68880033 (on Assembly GRCh38)
• Chr14: 69346750 (on Assembly GRCh37)

Preferred name:

NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)

HGVS:

• NC_000014.9:g.68880033T>C
• NG_029480.1:g.104334A>G
• NM_001102.4:c.2209A>G
• NM_001130004.2:c.2209A>GMANE SELECT
• NM_001130005.2:c.2209A>G
• NP_001093.1:p.Thr737Ala
• NP_001123476.1:p.Thr737Ala
• NP_001123477.1:p.Thr737Ala
• LRG_886:g.104334A>G
• NC_000014.8:g.69346750T>C
• NM_001102.3:c.2209A>G

This HGVS expression did not pass validation

Protein change:

T737A

Links:

dbSNP: rs1594751712

NCBI 1000 Genomes Browser:

rs1594751712

Molecular consequence:

• NM_001102.4:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130004.2:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130005.2:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]