ClinVar

NM_000883.4(IMPDH1):c.951C>T (p.Asp317=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398537 (on Assembly GRCh38)
• Chr7: 128038591 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.951C>T (p.Asp317=)

HGVS:

• NC_000007.14:g.128398537G>A
• NG_009194.1:g.16446C>T
• NM_000883.4:c.951C>TMANE SELECT
• NM_001102605.2:c.921C>T
• NM_001142573.2:c.696C>T
• NM_001142574.2:c.681C>T
• NM_001142575.2:c.621C>T
• NM_001142576.2:c.852C>T
• NM_001304521.2:c.744C>T
• NM_183243.3:c.843C>T
• NP_000874.2:p.Asp317=
• NP_001096075.1:p.Asp307=
• NP_001136045.1:p.Asp232=
• NP_001136046.1:p.Asp227=
• NP_001136047.1:p.Asp207=
• NP_001136048.1:p.Asp284=
• NP_001291450.1:p.Asp248=
• NP_899066.1:p.Asp281=
• NC_000007.13:g.128038591G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000883.4:c.951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.681C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.621C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142576.2:c.852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304521.2:c.744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]