ClinVar

NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)

Genes:

LOC130060994:ATAC-STARR-seq lymphoblastoid active region 12266 [Gene]
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44911284 (on Assembly GRCh38)
• Chr17: 42988652 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)

HGVS:

• NC_000017.11:g.44911284T>A
• NG_008401.1:g.9263A>T
• NM_001131019.3:c.1079A>T
• NM_001242376.3:c.1079A>T
• NM_001363846.2:c.1079A>T
• NM_002055.5:c.1079A>TMANE SELECT
• NP_001124491.1:p.Asp360Val
• NP_001229305.1:p.Asp360Val
• NP_001350775.1:p.Asp360Val
• NP_002046.1:p.Asp360Val
• NP_002046.1:p.Asp360Val
• NC_000017.10:g.42988652T>A
• NM_002055.4:c.1079A>T

This HGVS expression did not pass validation

Protein change:

D360V

Links:

dbSNP: rs62636501

NCBI 1000 Genomes Browser:

rs62636501

Molecular consequence:

• NM_001131019.3:c.1079A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242376.3:c.1079A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363846.2:c.1079A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002055.5:c.1079A>T - missense variant - [Sequence Ontology: SO:0001583]