ClinVar

NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36996702 (on Assembly GRCh38)
• Chr3: 37038193 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)

HGVS:

• NC_000003.12:g.36996702G>A
• NG_007109.2:g.8353G>A
• NG_008418.1:g.1603C>T
• NM_000249.4:c.200G>AMANE SELECT
• NM_001167617.3:c.-90G>A
• NM_001167618.3:c.-524G>A
• NM_001167619.3:c.-432G>A
• NM_001258271.2:c.200G>A
• NM_001258273.2:c.-517+3039G>A
• NM_001258274.3:c.-669G>A
• NM_001354615.2:c.-427G>A
• NM_001354616.2:c.-432G>A
• NM_001354617.2:c.-524G>A
• NM_001354618.2:c.-524G>A
• NM_001354619.2:c.-524G>A
• NM_001354620.2:c.-90G>A
• NM_001354621.2:c.-617G>A
• NM_001354622.2:c.-730G>A
• NM_001354623.2:c.-723+2812G>A
• NM_001354624.2:c.-627G>A
• NM_001354625.2:c.-530G>A
• NM_001354626.2:c.-627G>A
• NM_001354627.2:c.-627G>A
• NM_001354628.2:c.200G>A
• NM_001354629.2:c.200G>A
• NM_001354630.2:c.200G>A
• NP_000240.1:p.Gly67Glu
• NP_000240.1:p.Gly67Glu
• NP_001245200.1:p.Gly67Glu
• NP_001341557.1:p.Gly67Glu
• NP_001341558.1:p.Gly67Glu
• NP_001341559.1:p.Gly67Glu
• LRG_216t1:c.200G>A
• LRG_216:g.8353G>A
• LRG_216p1:p.Gly67Glu
• NC_000003.11:g.37038193G>A
• NM_000249.3:c.200G>A
• NM_001167618.1:c.-524G>A
• P40692:p.Gly67Glu
• p.G67E

This HGVS expression did not pass validation

Protein change:

G67E; GLY67GLU

Links:

UniProtKB: P40692#VAR_038024; OMIM: 120436.0029; dbSNP: rs63749939

NCBI 1000 Genomes Browser:

rs63749939

Molecular consequence:

• NM_001167617.3:c.-90G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-524G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-432G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-669G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-427G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-432G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-524G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-524G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-524G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-90G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-617G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-730G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-627G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-530G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-627G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-627G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-517+3039G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354623.2:c.-723+2812G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000249.4:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258271.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354628.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354629.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354630.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]