ClinVar

NM_001614.5(ACTG1):c.67G>A (p.Gly23Arg)

Genes:

LOC130061940:ATAC-STARR-seq lymphoblastoid active region 12964 [Gene]
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81512288 (on Assembly GRCh38)
• Chr17: 79479314 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.67G>A (p.Gly23Arg)

HGVS:

• NC_000017.11:g.81512288C>T
• NG_011433.1:g.5514G>A
• NM_001199954.3:c.67G>A
• NM_001614.5:c.67G>AMANE SELECT
• NP_001186883.1:p.Gly23Arg
• NP_001605.1:p.Gly23Arg
• NC_000017.10:g.79479314C>T
• NM_001614.3:c.67G>A
• NR_037688.3:n.139G>A

This HGVS expression did not pass validation

Protein change:

G23R

Links:

dbSNP: rs1555667243

NCBI 1000 Genomes Browser:

rs1555667243

Molecular consequence:

• NM_001199954.3:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001614.5:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037688.3:n.139G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1