ClinVar

NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)

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: 44911277 (on Assembly GRCh38)
• Chr17: 42988645 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)

HGVS:

• NC_000017.11:g.44911277C>G
• NG_008401.1:g.9270G>C
• NM_001131019.3:c.1086G>C
• NM_001242376.3:c.1086G>C
• NM_001363846.2:c.1086G>C
• NM_002055.5:c.1086G>CMANE SELECT
• NP_001124491.1:p.Glu362Asp
• NP_001229305.1:p.Glu362Asp
• NP_001350775.1:p.Glu362Asp
• NP_002046.1:p.Glu362Asp
• NC_000017.10:g.42988645C>G
• NM_002055.4:c.1086>C
• NM_002055.4:c.1086G>C
• P14136:p.Glu362Asp

This HGVS expression did not pass validation

Protein change:

E362D; GLU362ASP

Links:

UniProtKB: P14136#VAR_017475; OMIM: 137780.0010; dbSNP: rs121909718

NCBI 1000 Genomes Browser:

rs121909718

Molecular consequence:

• NM_001131019.3:c.1086G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242376.3:c.1086G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363846.2:c.1086G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002055.5:c.1086G>C - missense variant - [Sequence Ontology: SO:0001583]