ClinVar

NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36996701 (on Assembly GRCh38)
• Chr3: 37038192 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)

HGVS:

• NC_000003.12:g.36996701G>T
• NG_007109.2:g.8352G>T
• NG_008418.1:g.1604C>A
• NM_000249.4:c.199G>TMANE SELECT
• NM_001167617.3:c.-91G>T
• NM_001167618.3:c.-525G>T
• NM_001167619.3:c.-433G>T
• NM_001258271.2:c.199G>T
• NM_001258273.2:c.-517+3038G>T
• NM_001258274.3:c.-670G>T
• NM_001354615.2:c.-428G>T
• NM_001354616.2:c.-433G>T
• NM_001354617.2:c.-525G>T
• NM_001354618.2:c.-525G>T
• NM_001354619.2:c.-525G>T
• NM_001354620.2:c.-91G>T
• NM_001354621.2:c.-618G>T
• NM_001354622.2:c.-731G>T
• NM_001354623.2:c.-723+2811G>T
• NM_001354624.2:c.-628G>T
• NM_001354625.2:c.-531G>T
• NM_001354626.2:c.-628G>T
• NM_001354627.2:c.-628G>T
• NM_001354628.2:c.199G>T
• NM_001354629.2:c.199G>T
• NM_001354630.2:c.199G>T
• NP_000240.1:p.Gly67Trp
• NP_000240.1:p.Gly67Trp
• NP_001245200.1:p.Gly67Trp
• NP_001341557.1:p.Gly67Trp
• NP_001341558.1:p.Gly67Trp
• NP_001341559.1:p.Gly67Trp
• LRG_216t1:c.199G>T
• LRG_216:g.8352G>T
• LRG_216p1:p.Gly67Trp
• NC_000003.11:g.37038192G>T
• NM_000249.3:c.199G>T
• P40692:p.Gly67Trp

This HGVS expression did not pass validation

Protein change:

G67W; GLY67TRP

Links:

UniProtKB: P40692#VAR_012903; OMIM: 120436.0011; dbSNP: rs63750206

NCBI 1000 Genomes Browser:

rs63750206

Molecular consequence:

• NM_001167617.3:c.-91G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-525G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-433G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-670G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-428G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-433G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-525G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-525G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-525G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-91G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-618G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-731G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-628G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-531G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-628G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-628G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-517+3038G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354623.2:c.-723+2811G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000249.4:c.199G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258271.2:c.199G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354628.2:c.199G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354629.2:c.199G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354630.2:c.199G>T - missense variant - [Sequence Ontology: SO:0001583]