ClinVar

NM_002055.5(GFAP):c.731C>T (p.Ala244Val)

Gene:

GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44913318 (on Assembly GRCh38)
• Chr17: 42990686 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.731C>T (p.Ala244Val)

HGVS:

• NC_000017.11:g.44913318G>A
• NG_008401.1:g.7229C>T
• NM_001131019.3:c.731C>T
• NM_001242376.3:c.731C>T
• NM_001363846.2:c.731C>T
• NM_002055.5:c.731C>TMANE SELECT
• NP_001124491.1:p.Ala244Val
• NP_001229305.1:p.Ala244Val
• NP_001350775.1:p.Ala244Val
• NP_002046.1:p.Ala244Val
• NC_000017.10:g.42990686G>A
• NM_002055.4:c.731C>T
• P14136:p.Ala244Val

This HGVS expression did not pass validation

Protein change:

A244V

Links:

UniProtKB: P14136#VAR_017473; dbSNP: rs61497286

NCBI 1000 Genomes Browser:

rs61497286

Molecular consequence:

• NM_001131019.3:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242376.3:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363846.2:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002055.5:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]