ClinVar

NM_000883.4(IMPDH1):c.921C>T (p.Ile307=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398567 (on Assembly GRCh38)
• Chr7: 128038621 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.921C>T (p.Ile307=)

HGVS:

• NC_000007.14:g.128398567G>A
• NG_009194.1:g.16416C>T
• NM_000883.4:c.921C>TMANE SELECT
• NM_001102605.2:c.891C>T
• NM_001142573.2:c.666C>T
• NM_001142574.2:c.651C>T
• NM_001142575.2:c.591C>T
• NM_001142576.2:c.822C>T
• NM_001304521.2:c.714C>T
• NM_183243.3:c.813C>T
• NP_000874.2:p.Ile307=
• NP_001096075.1:p.Ile297=
• NP_001136045.1:p.Ile222=
• NP_001136046.1:p.Ile217=
• NP_001136047.1:p.Ile197=
• NP_001136048.1:p.Ile274=
• NP_001291450.1:p.Ile238=
• NP_899066.1:p.Ile271=
• NC_000007.13:g.128038621G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs371759273

NCBI 1000 Genomes Browser:

rs371759273

Molecular consequence:

• NM_000883.4:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142576.2:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304521.2:c.714C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]