ClinVar

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128394488 (on Assembly GRCh38)
• Chr7: 128034542 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)

HGVS:

• NC_000007.14:g.128394488C>T
• NG_009194.1:g.20495G>A
• NM_000883.4:c.1662G>AMANE SELECT
• NM_001102605.2:c.1632G>A
• NM_001142573.2:c.1407G>A
• NM_001142574.2:c.1392G>A
• NM_001142575.2:c.1332G>A
• NM_001142576.2:c.1563G>A
• NM_001304521.2:c.1455G>A
• NM_183243.3:c.1554G>A
• NP_000874.2:p.Gln554=
• NP_001096075.1:p.Gln544=
• NP_001136045.1:p.Gln469=
• NP_001136046.1:p.Gln464=
• NP_001136047.1:p.Gln444=
• NP_001136048.1:p.Gln521=
• NP_001291450.1:p.Gln485=
• NP_899066.1:p.Gln518=
• NC_000007.13:g.128034542C>T
• NC_000007.13:g.128034542C>T
• NM_000883.3:c.1662G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs139785999

NCBI 1000 Genomes Browser:

rs139785999

Molecular consequence:

• NM_000883.4:c.1662G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001102605.2:c.1632G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142573.2:c.1407G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142574.2:c.1392G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142575.2:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142576.2:c.1563G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304521.2:c.1455G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183243.3:c.1554G>A - synonymous variant - [Sequence Ontology: SO:0001819]