ClinVar

NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)

Gene:

AKR1D1:aldo-keto reductase family 1 member D1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q33

Genomic location:

• Chr7: 138091838 (on Assembly GRCh38)
• Chr7: 137776584 (on Assembly GRCh37)

Preferred name:

NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)

HGVS:

• NC_000007.14:g.138091838T>C
• NG_023342.1:g.20407T>C
• NM_001190906.2:c.332T>C
• NM_001190907.2:c.332T>C
• NM_005989.4:c.332T>CMANE SELECT
• NP_001177835.1:p.Leu111Pro
• NP_001177836.1:p.Leu111Pro
• NP_005980.1:p.Leu111Pro
• NC_000007.13:g.137776584T>C

This HGVS expression did not pass validation

Protein change:

L111P

Links:

dbSNP: rs187887082

NCBI 1000 Genomes Browser:

rs187887082

Molecular consequence:

• NM_001190906.2:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190907.2:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005989.4:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1