ClinVar

NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398510 (on Assembly GRCh38)
• Chr7: 128038564 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)

HGVS:

• NC_000007.14:g.128398510C>G
• NG_009194.1:g.16473G>C
• NM_000883.4:c.978G>CMANE SELECT
• NM_001102605.2:c.948G>C
• NM_001142573.2:c.723G>C
• NM_001142574.2:c.708G>C
• NM_001142575.2:c.648G>C
• NM_001142576.2:c.879G>C
• NM_001304521.2:c.771G>C
• NM_183243.3:c.870G>C
• NP_000874.2:p.Gln326His
• NP_001096075.1:p.Gln316His
• NP_001136045.1:p.Gln241His
• NP_001136046.1:p.Gln236His
• NP_001136047.1:p.Gln216His
• NP_001136048.1:p.Gln293His
• NP_001291450.1:p.Gln257His
• NP_899066.1:p.Gln290His
• NC_000007.13:g.128038564C>G
• NM_000883.3:c.978G>C

This HGVS expression did not pass validation

Protein change:

Q216H

Links:

dbSNP: rs1584727989

NCBI 1000 Genomes Browser:

rs1584727989

Molecular consequence:

• NM_000883.4:c.978G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.723G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.708G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.879G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.771G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.870G>C - missense variant - [Sequence Ontology: SO:0001583]