ClinVar

NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44913333 (on Assembly GRCh38)
• Chr17: 42990701 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)

HGVS:

• NC_000017.11:g.44913333C>G
• NG_008401.1:g.7214G>C
• NM_001131019.3:c.716G>C
• NM_001242376.3:c.716G>C
• NM_001363846.2:c.716G>C
• NM_002055.5:c.716G>CMANE SELECT
• NP_001124491.1:p.Arg239Pro
• NP_001229305.1:p.Arg239Pro
• NP_001350775.1:p.Arg239Pro
• NP_002046.1:p.Arg239Pro
• NC_000017.10:g.42990701C>G
• NM_002055.4:c.716G>C
• P14136:p.Arg239Pro

This HGVS expression did not pass validation

Protein change:

R239P

Links:

UniProtKB: P14136#VAR_071546; dbSNP: rs59565950

NCBI 1000 Genomes Browser:

rs59565950

Molecular consequence:

• NM_001131019.3:c.716G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242376.3:c.716G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363846.2:c.716G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002055.5:c.716G>C - missense variant - [Sequence Ontology: SO:0001583]