ClinVar

NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398432 (on Assembly GRCh38)
• Chr7: 128038486 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=)

HGVS:

• NC_000007.14:g.128398432G>A
• NG_009194.1:g.16551C>T
• NM_000883.4:c.1056C>TMANE SELECT
• NM_001102605.2:c.1026C>T
• NM_001142573.2:c.801C>T
• NM_001142574.2:c.786C>T
• NM_001142575.2:c.726C>T
• NM_001142576.2:c.957C>T
• NM_001304521.2:c.849C>T
• NM_183243.3:c.948C>T
• NP_000874.2:p.Gly352=
• NP_001096075.1:p.Gly342=
• NP_001136045.1:p.Gly267=
• NP_001136046.1:p.Gly262=
• NP_001136047.1:p.Gly242=
• NP_001136048.1:p.Gly319=
• NP_001291450.1:p.Gly283=
• NP_899066.1:p.Gly316=
• NC_000007.13:g.128038486G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs779143637

NCBI 1000 Genomes Browser:

rs779143637

Molecular consequence:

• NM_000883.4:c.1056C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.801C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.786C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.726C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142576.2:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304521.2:c.849C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.948C>T - synonymous variant - [Sequence Ontology: SO:0001819]