ClinVar

NM_005896.4(IDH1):c.395G>A (p.Arg132His)

Gene:

IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

• Chr2: 208248388 (on Assembly GRCh38)
• Chr2: 209113112 (on Assembly GRCh37)

Preferred name:

NM_005896.4(IDH1):c.395G>A (p.Arg132His)

HGVS:

• NC_000002.12:g.208248388C>T
• NG_023319.2:g.22687G>A
• NM_001282386.1:c.395G>A
• NM_001282387.1:c.395G>A
• NM_005896.4:c.395G>AMANE SELECT
• NP_001269315.1:p.Arg132His
• NP_001269316.1:p.Arg132His
• NP_005887.2:p.Arg132His
• LRG_610t2:c.395G>A
• LRG_610t3:c.395G>A
• LRG_610:g.22687G>A
• LRG_610p2:p.Arg132His
• LRG_610p3:p.Arg132His
• NC_000002.11:g.209113112C>T
• NM_005896.3:c.395G>A
• O75874:p.Arg132His

This HGVS expression did not pass validation

Protein change:

R132H; ARG132HIS

Links:

UniProtKB: O75874#VAR_055455; OMIM: 147700.0001; dbSNP: rs121913500

NCBI 1000 Genomes Browser:

rs121913500

Molecular consequence:

• NM_001282386.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282387.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005896.4:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]