ClinVar

NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993614 (on Assembly GRCh38)
• Chr3: 37035105 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)

Other names:

p.E23*:GAA>TAA

HGVS:

• NC_000003.12:g.36993614G>T
• NG_007109.2:g.5265G>T
• NG_008418.1:g.4691C>A
• NM_000249.4:c.67G>TMANE SELECT
• NM_001167617.3:c.-450G>T
• NM_001167618.3:c.-879G>T
• NM_001167619.3:c.-792G>T
• NM_001258271.2:c.67G>T
• NM_001258273.2:c.-566G>T
• NM_001258274.3:c.-1029G>T
• NM_001354615.2:c.-560G>T
• NM_001354616.2:c.-560G>T
• NM_001354617.2:c.-652G>T
• NM_001354618.2:c.-884G>T
• NM_001354619.2:c.-1008G>T
• NM_001354620.2:c.-218G>T
• NM_001354621.2:c.-977G>T
• NM_001354622.2:c.-1090G>T
• NM_001354623.2:c.-999G>T
• NM_001354624.2:c.-760G>T
• NM_001354625.2:c.-658G>T
• NM_001354626.2:c.-755G>T
• NM_001354627.2:c.-987G>T
• NM_001354628.2:c.67G>T
• NM_001354629.2:c.67G>T
• NM_001354630.2:c.67G>T
• NP_000240.1:p.Glu23Ter
• NP_000240.1:p.Glu23Ter
• NP_001245200.1:p.Glu23Ter
• NP_001341557.1:p.Glu23Ter
• NP_001341558.1:p.Glu23Ter
• NP_001341559.1:p.Glu23Ter
• LRG_216t1:c.67G>T
• LRG_216:g.5265G>T
• LRG_216p1:p.Glu23Ter
• NC_000003.11:g.37035105G>T
• NM_000249.3:c.67G>T

This HGVS expression did not pass validation

Protein change:

E23*

Links:

dbSNP: rs63750823

NCBI 1000 Genomes Browser:

rs63750823

Molecular consequence:

• NM_001167617.3:c.-450G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-879G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-792G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-566G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-1029G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-560G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-560G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-652G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-884G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-1008G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-218G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-977G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-1090G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-999G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-760G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-658G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-755G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-987G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.67G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258271.2:c.67G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354628.2:c.67G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354629.2:c.67G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354630.2:c.67G>T - nonsense - [Sequence Ontology: SO:0001587]