ClinVar

NM_000883.4(IMPDH1):c.940A>G (p.Lys314Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398548 (on Assembly GRCh38)
• Chr7: 128038602 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.940A>G (p.Lys314Glu)

HGVS:

• NC_000007.14:g.128398548T>C
• NG_009194.1:g.16435A>G
• NM_000883.4:c.940A>GMANE SELECT
• NM_001102605.2:c.910A>G
• NM_001142573.2:c.685A>G
• NM_001142574.2:c.670A>G
• NM_001142575.2:c.610A>G
• NM_001142576.2:c.841A>G
• NM_001304521.2:c.733A>G
• NM_183243.3:c.832A>G
• NP_000874.2:p.Lys314Glu
• NP_001096075.1:p.Lys304Glu
• NP_001136045.1:p.Lys229Glu
• NP_001136046.1:p.Lys224Glu
• NP_001136047.1:p.Lys204Glu
• NP_001136048.1:p.Lys281Glu
• NP_001291450.1:p.Lys245Glu
• NP_899066.1:p.Lys278Glu
• NC_000007.13:g.128038602T>C

This HGVS expression did not pass validation

Protein change:

K204E

Links:

dbSNP: rs998758838

NCBI 1000 Genomes Browser:

rs998758838

Molecular consequence:

• NM_000883.4:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.910A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.841A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.832A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1