ClinVar

NM_002055.5(GFAP):c.247T>C (p.Tyr83His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44915240 (on Assembly GRCh38)
• Chr17: 42992608 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.247T>C (p.Tyr83His)

HGVS:

• NC_000017.11:g.44915240A>G
• NG_008401.1:g.5307T>C
• NM_001131019.3:c.247T>C
• NM_001242376.3:c.247T>C
• NM_001363846.2:c.247T>C
• NM_002055.5:c.247T>CMANE SELECT
• NP_001124491.1:p.Tyr83His
• NP_001229305.1:p.Tyr83His
• NP_001350775.1:p.Tyr83His
• NP_002046.1:p.Tyr83His
• NC_000017.10:g.42992608A>G
• NM_002055.4:c.247T>C
• P14136:p.Tyr83His

This HGVS expression did not pass validation

Protein change:

Y83H

Links:

UniProtKB: P14136#VAR_071533; dbSNP: rs267607506

NCBI 1000 Genomes Browser:

rs267607506

Molecular consequence:

• NM_001131019.3:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242376.3:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363846.2:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002055.5:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]