ClinVar

NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128400107 (on Assembly GRCh38)
• Chr7: 128040161 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys)

HGVS:

• NC_000007.14:g.128400107G>A
• NG_009194.1:g.14876C>T
• NM_000883.4:c.862C>TMANE SELECT
• NM_001102605.2:c.832C>T
• NM_001142573.2:c.607C>T
• NM_001142574.2:c.592C>T
• NM_001142575.2:c.532C>T
• NM_001142576.2:c.763C>T
• NM_001304521.2:c.655C>T
• NM_183243.3:c.754C>T
• NP_000874.2:p.Arg288Cys
• NP_001096075.1:p.Arg278Cys
• NP_001136045.1:p.Arg203Cys
• NP_001136046.1:p.Arg198Cys
• NP_001136047.1:p.Arg178Cys
• NP_001136048.1:p.Arg255Cys
• NP_001291450.1:p.Arg219Cys
• NP_899066.1:p.Arg252Cys
• NC_000007.13:g.128040161G>A
• NC_000007.13:g.128040161G>A
• NM_000883.3:c.862C>T

This HGVS expression did not pass validation

Protein change:

R178C

Links:

dbSNP: rs144929093

NCBI 1000 Genomes Browser:

rs144929093

Molecular consequence:

• NM_000883.4:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.592C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.754C>T - missense variant - [Sequence Ontology: SO:0001583]