ClinVar

NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128398431 (on Assembly GRCh38)
• Chr7: 128038485 (on Assembly GRCh37)

Preferred name:

NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)

HGVS:

• NC_000007.14:g.128398431C>T
• NG_009194.1:g.16552G>A
• NM_000883.4:c.1057G>AMANE SELECT
• NM_001102605.2:c.1027G>A
• NM_001142573.2:c.802G>A
• NM_001142574.2:c.787G>A
• NM_001142575.2:c.727G>A
• NM_001142576.2:c.958G>A
• NM_001304521.2:c.850G>A
• NM_183243.3:c.949G>A
• NP_000874.2:p.Val353Ile
• NP_001096075.1:p.Val343Ile
• NP_001136045.1:p.Val268Ile
• NP_001136046.1:p.Val263Ile
• NP_001136047.1:p.Val243Ile
• NP_001136048.1:p.Val320Ile
• NP_001291450.1:p.Val284Ile
• NP_899066.1:p.Val317Ile
• NC_000007.13:g.128038485C>T

This HGVS expression did not pass validation

Protein change:

V243I; VAL268ILE

Links:

OMIM: 146690.0002; dbSNP: rs121912551

NCBI 1000 Genomes Browser:

rs121912551

Molecular consequence:

• NM_000883.4:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102605.2:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142573.2:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142574.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142575.2:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142576.2:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304521.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183243.3:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]