ClinVar

NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128405784 (on Assembly GRCh38)
• Chr7: 128045838 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)

HGVS:

• NC_000007.14:g.128405784G>A
• NG_009194.1:g.9199C>T
• NM_000883.4:c.336C>TMANE SELECT
• NM_001102605.2:c.306C>T
• NM_001142573.2:c.81C>T
• NM_001142574.2:c.81C>T
• NM_001142575.2:c.81C>T
• NM_001142576.2:c.255-2030C>T
• NM_001304521.2:c.147-2030C>T
• NM_183243.3:c.228C>T
• NP_000874.2:p.Ala112=
• NP_001096075.1:p.Ala102=
• NP_001136045.1:p.Ala27=
• NP_001136046.1:p.Ala27=
• NP_001136047.1:p.Ala27=
• NP_899066.1:p.Ala76=
• NC_000007.13:g.128045838G>A
• NM_000883.3:c.336C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs547740249

NCBI 1000 Genomes Browser:

rs547740249

Molecular consequence:

• NM_001142576.2:c.255-2030C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304521.2:c.147-2030C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000883.4:c.336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2