ClinVar

NM_002055.5(GFAP):c.73C>T (p.Leu25=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44915414 (on Assembly GRCh38)
• Chr17: 42992782 (on Assembly GRCh37)

Preferred name:

NM_002055.5(GFAP):c.73C>T (p.Leu25=)

HGVS:

• NC_000017.11:g.44915414G>A
• NG_008401.1:g.5133C>T
• NG_008401.2:g.5086C>T
• NM_001131019.3:c.73C>T
• NM_001242376.3:c.73C>T
• NM_001363846.2:c.73C>T
• NM_002055.5:c.73C>TMANE SELECT
• NP_001124491.1:p.Leu25=
• NP_001229305.1:p.Leu25=
• NP_001350775.1:p.Leu25=
• NP_002046.1:p.Leu25=
• NC_000017.10:g.42992782G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001131019.3:c.73C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242376.3:c.73C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363846.2:c.73C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002055.5:c.73C>T - synonymous variant - [Sequence Ontology: SO:0001819]