ClinVar

NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993612 (on Assembly GRCh38)
• Chr3: 37035103 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)

Other names:

p.G22A:GGG>GCG

HGVS:

• NC_000003.12:g.36993612G>C
• NG_007109.2:g.5263G>C
• NG_008418.1:g.4693C>G
• NM_000249.4:c.65G>CMANE SELECT
• NM_001167617.3:c.-452G>C
• NM_001167618.3:c.-881G>C
• NM_001167619.3:c.-794G>C
• NM_001258271.2:c.65G>C
• NM_001258273.2:c.-568G>C
• NM_001258274.3:c.-1031G>C
• NM_001354615.2:c.-562G>C
• NM_001354616.2:c.-562G>C
• NM_001354617.2:c.-654G>C
• NM_001354618.2:c.-886G>C
• NM_001354619.2:c.-1010G>C
• NM_001354620.2:c.-220G>C
• NM_001354621.2:c.-979G>C
• NM_001354622.2:c.-1092G>C
• NM_001354623.2:c.-1001G>C
• NM_001354624.2:c.-762G>C
• NM_001354625.2:c.-660G>C
• NM_001354626.2:c.-757G>C
• NM_001354627.2:c.-989G>C
• NM_001354628.2:c.65G>C
• NM_001354629.2:c.65G>C
• NM_001354630.2:c.65G>C
• NP_000240.1:p.Gly22Ala
• NP_000240.1:p.Gly22Ala
• NP_001245200.1:p.Gly22Ala
• NP_001341557.1:p.Gly22Ala
• NP_001341558.1:p.Gly22Ala
• NP_001341559.1:p.Gly22Ala
• LRG_216t1:c.65G>C
• LRG_216:g.5263G>C
• LRG_216p1:p.Gly22Ala
• NC_000003.11:g.37035103G>C
• NM_000249.3:c.65G>C
• P40692:p.Gly22Ala
• p.G22A

This HGVS expression did not pass validation

Protein change:

G22A

Links:

UniProtKB: P40692#VAR_038023; dbSNP: rs41295280

NCBI 1000 Genomes Browser:

rs41295280

Molecular consequence:

• NM_001167617.3:c.-452G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-881G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-794G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-568G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-1031G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-562G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-562G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-654G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-886G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-1010G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-220G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-979G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-1092G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-1001G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-762G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-660G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-757G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-989G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.65G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258271.2:c.65G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354628.2:c.65G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354629.2:c.65G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354630.2:c.65G>C - missense variant - [Sequence Ontology: SO:0001583]