ClinVar

NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)

Gene:

ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81511912 (on Assembly GRCh38)
• Chr17: 79478938 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)

HGVS:

• NC_000017.11:g.81511912C>G
• NG_011433.1:g.5890G>C
• NM_001199954.3:c.354G>C
• NM_001614.5:c.354G>CMANE SELECT
• NP_001186883.1:p.Lys118Asn
• NP_001605.1:p.Lys118Asn
• NC_000017.10:g.79478938C>G
• NM_001614.3:c.354G>C
• NR_037688.3:n.426G>C
• P63261:p.Lys118Asn

This HGVS expression did not pass validation

Protein change:

K118N; LYS118ASN

Links:

UniProtKB: P63261#VAR_067824; UniProtKB/Swiss-Prot: VAR_067824; OMIM: 102560.0007; dbSNP: rs267606630

NCBI 1000 Genomes Browser:

rs267606630

Molecular consequence:

• NM_001199954.3:c.354G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001614.5:c.354G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_037688.3:n.426G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]