ClinVar

NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37050632 (on Assembly GRCh38)
• Chr3: 37092123 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)

HGVS:

• NC_000003.12:g.37050632C>A
• NG_007109.2:g.62283C>A
• NG_053016.1:g.131186G>T
• NM_000249.4:c.2250C>AMANE SELECT
• NM_001167617.3:c.1956C>A
• NM_001167618.3:c.1527C>A
• NM_001167619.3:c.1527C>A
• NM_001258271.2:c.2043C>A
• NM_001258273.2:c.1527C>A
• NM_001258274.3:c.1527C>A
• NM_001354615.2:c.1527C>A
• NM_001354616.2:c.1527C>A
• NM_001354617.2:c.1527C>A
• NM_001354618.2:c.1527C>A
• NM_001354619.2:c.1527C>A
• NM_001354620.2:c.1956C>A
• NM_001354621.2:c.1227C>A
• NM_001354622.2:c.1227C>A
• NM_001354623.2:c.1227C>A
• NM_001354624.2:c.1176C>A
• NM_001354625.2:c.1176C>A
• NM_001354626.2:c.1176C>A
• NM_001354627.2:c.1176C>A
• NM_001354628.2:c.2157C>A
• NM_001354629.2:c.2151C>A
• NM_001354630.2:c.2085C>A
• NP_000240.1:p.Tyr750Ter
• NP_000240.1:p.Tyr750Ter
• NP_001161089.1:p.Tyr652Ter
• NP_001161090.1:p.Tyr509Ter
• NP_001161091.1:p.Tyr509Ter
• NP_001245200.1:p.Tyr681Ter
• NP_001245202.1:p.Tyr509Ter
• NP_001245203.1:p.Tyr509Ter
• NP_001341544.1:p.Tyr509Ter
• NP_001341545.1:p.Tyr509Ter
• NP_001341546.1:p.Tyr509Ter
• NP_001341547.1:p.Tyr509Ter
• NP_001341548.1:p.Tyr509Ter
• NP_001341549.1:p.Tyr652Ter
• NP_001341550.1:p.Tyr409Ter
• NP_001341551.1:p.Tyr409Ter
• NP_001341552.1:p.Tyr409Ter
• NP_001341553.1:p.Tyr392Ter
• NP_001341554.1:p.Tyr392Ter
• NP_001341555.1:p.Tyr392Ter
• NP_001341556.1:p.Tyr392Ter
• NP_001341557.1:p.Tyr719Ter
• NP_001341558.1:p.Tyr717Ter
• NP_001341559.1:p.Tyr695Ter
• LRG_216t1:c.2250C>A
• LRG_216:g.62283C>A
• LRG_216p1:p.Tyr750Ter
• NC_000003.11:g.37092123C>A
• NM_000249.3:c.2250C>A

This HGVS expression did not pass validation

Protein change:

Y392*

Links:

dbSNP: rs267607893

NCBI 1000 Genomes Browser:

rs267607893

Molecular consequence:

• NM_000249.4:c.2250C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001167617.3:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001167618.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001167619.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258271.2:c.2043C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258273.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258274.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354615.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354616.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354617.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354618.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354619.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354620.2:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354621.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354622.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354623.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354624.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354625.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354626.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354627.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354628.2:c.2157C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354629.2:c.2151C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354630.2:c.2085C>A - nonsense - [Sequence Ontology: SO:0001587]