ClinVar

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37012098 (on Assembly GRCh38)
• Chr3: 37053589 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

Other names:

p.R226*:CGA>TGA

HGVS:

• NC_000003.12:g.37012098C>T
• NG_007109.2:g.23749C>T
• NM_000249.4:c.676C>TMANE SELECT
• NM_001167617.3:c.382C>T
• NM_001167618.3:c.-48C>T
• NM_001167619.3:c.-48C>T
• NM_001258271.2:c.676C>T
• NM_001258273.2:c.-48C>T
• NM_001258274.3:c.-48C>T
• NM_001354615.2:c.-48C>T
• NM_001354616.2:c.-48C>T
• NM_001354617.2:c.-48C>T
• NM_001354618.2:c.-48C>T
• NM_001354619.2:c.-48C>T
• NM_001354620.2:c.382C>T
• NM_001354621.2:c.-141C>T
• NM_001354622.2:c.-254C>T
• NM_001354623.2:c.-254C>T
• NM_001354624.2:c.-151C>T
• NM_001354625.2:c.-151C>T
• NM_001354626.2:c.-151C>T
• NM_001354627.2:c.-151C>T
• NM_001354628.2:c.676C>T
• NM_001354629.2:c.577C>T
• NM_001354630.2:c.676C>T
• NP_000240.1:p.Arg226Ter
• NP_000240.1:p.Arg226Ter
• NP_001161089.1:p.Arg128Ter
• NP_001245200.1:p.Arg226Ter
• NP_001341549.1:p.Arg128Ter
• NP_001341557.1:p.Arg226Ter
• NP_001341558.1:p.Arg193Ter
• NP_001341559.1:p.Arg226Ter
• LRG_216t1:c.676C>T
• LRG_216:g.23749C>T
• LRG_216p1:p.Arg226Ter
• NC_000003.11:g.37053589C>T
• NM_000249.3:c.676C>T
• NM_001167617.1:c.382C>T
• p.Arg226*
• p.Arg226Stop
• p.R226*

This HGVS expression did not pass validation

Protein change:

R128*; ARG226TER

Links:

OMIM: 120436.0010; dbSNP: rs63751615

NCBI 1000 Genomes Browser:

rs63751615

Molecular consequence:

• NM_001167618.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-141C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-254C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-254C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-151C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001167617.3:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258271.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354620.2:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354628.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354629.2:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354630.2:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2