ClinVar

NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)

Gene:

IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398504 (on Assembly GRCh38)
• Chr7: 128038558 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)

HGVS:

• NC_000007.14:g.128398504C>G
• NG_009194.1:g.16479G>C
• NM_000883.4:c.984G>CMANE SELECT
• NM_001102605.2:c.954G>C
• NM_001142573.2:c.729G>C
• NM_001142574.2:c.714G>C
• NM_001142575.2:c.654G>C
• NM_001142576.2:c.885G>C
• NM_001304521.2:c.777G>C
• NM_183243.3:c.876G>C
• NP_000874.2:p.Gln328His
• NP_001096075.1:p.Gln318His
• NP_001136045.1:p.Gln243His
• NP_001136046.1:p.Gln238His
• NP_001136047.1:p.Gln218His
• NP_001136048.1:p.Gln295His
• NP_001291450.1:p.Gln259His
• NP_899066.1:p.Gln292His
• NC_000007.13:g.128038558C>G
• NM_001102605.1:c.954G>C

This HGVS expression did not pass validation

Protein change:

Q218H; GLN318HIS

Links:

OMIM: 146690.0006; dbSNP: rs886037911

NCBI 1000 Genomes Browser:

rs886037911

Molecular consequence:

• NM_000883.4:c.984G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.954G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.729G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.714G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.654G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.777G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]