ClinVar

NM_000883.4(IMPDH1):c.1675C>T (p.Arg559Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128394475 (on Assembly GRCh38)
• Chr7: 128034529 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.1675C>T (p.Arg559Cys)

HGVS:

• NC_000007.14:g.128394475G>A
• NG_009194.1:g.20508C>T
• NM_000883.4:c.1675C>TMANE SELECT
• NM_001102605.2:c.1645C>T
• NM_001142573.2:c.1420C>T
• NM_001142574.2:c.1405C>T
• NM_001142575.2:c.1345C>T
• NM_001142576.2:c.1576C>T
• NM_001304521.2:c.1468C>T
• NM_183243.3:c.1567C>T
• NP_000874.2:p.Arg559Cys
• NP_001096075.1:p.Arg549Cys
• NP_001136045.1:p.Arg474Cys
• NP_001136046.1:p.Arg469Cys
• NP_001136047.1:p.Arg449Cys
• NP_001136048.1:p.Arg526Cys
• NP_001291450.1:p.Arg490Cys
• NP_899066.1:p.Arg523Cys
• NC_000007.13:g.128034529G>A

This HGVS expression did not pass validation

Protein change:

R449C

Links:

dbSNP: rs777346676

NCBI 1000 Genomes Browser:

rs777346676

Molecular consequence:

• NM_000883.4:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.1645C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.1420C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.1405C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.1345C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.1576C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.1468C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]