ClinVar

NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398558 (on Assembly GRCh38)
• Chr7: 128038612 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)

HGVS:

• NC_000007.14:g.128398558G>A
• NG_009194.1:g.16425C>T
• NM_000883.4:c.930C>TMANE SELECT
• NM_001102605.2:c.900C>T
• NM_001142573.2:c.675C>T
• NM_001142574.2:c.660C>T
• NM_001142575.2:c.600C>T
• NM_001142576.2:c.831C>T
• NM_001304521.2:c.723C>T
• NM_183243.3:c.822C>T
• NP_000874.2:p.Thr310=
• NP_001096075.1:p.Thr300=
• NP_001136045.1:p.Thr225=
• NP_001136046.1:p.Thr220=
• NP_001136047.1:p.Thr200=
• NP_001136048.1:p.Thr277=
• NP_001291450.1:p.Thr241=
• NP_899066.1:p.Thr274=
• NC_000007.13:g.128038612G>A
• NM_000883.3:c.930C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150531977

NCBI 1000 Genomes Browser:

rs150531977

Molecular consequence:

• NM_000883.4:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.900C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142576.2:c.831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304521.2:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]