ClinVar

NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398440 (on Assembly GRCh38)
• Chr7: 128038494 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter)

HGVS:

• NC_000007.14:g.128398440G>A
• NG_009194.1:g.16543C>T
• NM_000883.4:c.1048C>TMANE SELECT
• NM_001102605.2:c.1018C>T
• NM_001142573.2:c.793C>T
• NM_001142574.2:c.778C>T
• NM_001142575.2:c.718C>T
• NM_001142576.2:c.949C>T
• NM_001304521.2:c.841C>T
• NM_183243.3:c.940C>T
• NP_000874.2:p.Gln350Ter
• NP_001096075.1:p.Gln340Ter
• NP_001136045.1:p.Gln265Ter
• NP_001136046.1:p.Gln260Ter
• NP_001136047.1:p.Gln240Ter
• NP_001136048.1:p.Gln317Ter
• NP_001291450.1:p.Gln281Ter
• NP_899066.1:p.Gln314Ter
• NC_000007.13:g.128038494G>A

This HGVS expression did not pass validation

Protein change:

Q240*

Links:

dbSNP: rs1218568607

NCBI 1000 Genomes Browser:

rs1218568607

Molecular consequence:

• NM_000883.4:c.1048C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001102605.2:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001142573.2:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001142574.2:c.778C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001142575.2:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001142576.2:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001304521.2:c.841C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_183243.3:c.940C>T - nonsense - [Sequence Ontology: SO:0001587]