ClinVar

NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398521 (on Assembly GRCh38)
• Chr7: 128038575 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)

HGVS:

• NC_000007.14:g.128398521T>C
• NG_009194.1:g.16462A>G
• NM_000883.4:c.967A>GMANE SELECT
• NM_001102605.2:c.937A>G
• NM_001142573.2:c.712A>G
• NM_001142574.2:c.697A>G
• NM_001142575.2:c.637A>G
• NM_001142576.2:c.868A>G
• NM_001304521.2:c.760A>G
• NM_183243.3:c.859A>G
• NP_000874.2:p.Lys323Glu
• NP_001096075.1:p.Lys313Glu
• NP_001136045.1:p.Lys238Glu
• NP_001136046.1:p.Lys233Glu
• NP_001136047.1:p.Lys213Glu
• NP_001136048.1:p.Lys290Glu
• NP_001291450.1:p.Lys254Glu
• NP_899066.1:p.Lys287Glu
• NC_000007.13:g.128038575T>C
• NM_000883.3:c.967A>G

This HGVS expression did not pass validation

Protein change:

K213E

Links:

dbSNP: rs1562989913

NCBI 1000 Genomes Browser:

rs1562989913

Molecular consequence:

• NM_000883.4:c.967A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.859A>G - missense variant - [Sequence Ontology: SO:0001583]