ClinVar

NM_000249.4(MLH1):c.2223_2233del (p.Gln742fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37050605 - 37050615 (on Assembly GRCh38)
• Chr3: 37092096 - 37092106 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.2223_2233del (p.Gln742fs)

HGVS:

• NC_000003.12:g.37050605_37050615del
• NG_007109.2:g.62256_62266del
• NM_000249.4:c.2223_2233delMANE SELECT
• NM_001167617.3:c.1929_1939del
• NM_001167618.3:c.1500_1510del
• NM_001167619.3:c.1500_1510del
• NM_001258271.2:c.2016_2026del
• NM_001258273.2:c.1500_1510del
• NM_001258274.3:c.1500_1510del
• NM_001354615.2:c.1500_1510del
• NM_001354616.2:c.1500_1510del
• NM_001354617.2:c.1500_1510del
• NM_001354618.2:c.1500_1510del
• NM_001354619.2:c.1500_1510del
• NM_001354620.2:c.1929_1939del
• NM_001354621.2:c.1200_1210del
• NM_001354622.2:c.1200_1210del
• NM_001354623.2:c.1200_1210del
• NM_001354624.2:c.1149_1159del
• NM_001354625.2:c.1149_1159del
• NM_001354626.2:c.1149_1159del
• NM_001354627.2:c.1149_1159del
• NM_001354628.2:c.2130_2140del
• NM_001354629.2:c.2124_2134del
• NM_001354630.2:c.2058_2068del
• NP_000240.1:p.Gln742fs
• NP_001161089.1:p.Gln644fs
• NP_001161090.1:p.Gln501fs
• NP_001161091.1:p.Gln501fs
• NP_001245200.1:p.Gln673fs
• NP_001245202.1:p.Gln501fs
• NP_001245203.1:p.Gln501fs
• NP_001341544.1:p.Gln501fs
• NP_001341545.1:p.Gln501fs
• NP_001341546.1:p.Gln501fs
• NP_001341547.1:p.Gln501fs
• NP_001341548.1:p.Gln501fs
• NP_001341549.1:p.Gln644fs
• NP_001341550.1:p.Gln401fs
• NP_001341551.1:p.Gln401fs
• NP_001341552.1:p.Gln401fs
• NP_001341553.1:p.Gln384fs
• NP_001341554.1:p.Gln384fs
• NP_001341555.1:p.Gln384fs
• NP_001341556.1:p.Gln384fs
• NP_001341557.1:p.Gln711fs
• NP_001341558.1:p.Gln709fs
• NP_001341559.1:p.Gln687fs
• LRG_216:g.62256_62266del
• NC_000003.11:g.37092096_37092106del

This HGVS expression did not pass validation

Protein change:

Q384fs

Links:

dbSNP: rs267607897

NCBI 1000 Genomes Browser:

rs267607897

Molecular consequence:

• NM_000249.4:c.2223_2233del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167617.3:c.1929_1939del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167618.3:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167619.3:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001258271.2:c.2016_2026del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001258273.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001258274.3:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354615.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354616.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354617.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354618.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354619.2:c.1500_1510del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354620.2:c.1929_1939del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354621.2:c.1200_1210del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354622.2:c.1200_1210del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354623.2:c.1200_1210del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354624.2:c.1149_1159del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354625.2:c.1149_1159del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354626.2:c.1149_1159del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354627.2:c.1149_1159del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354628.2:c.2130_2140del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354629.2:c.2124_2134del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354630.2:c.2058_2068del - frameshift variant - [Sequence Ontology: SO:0001589]