ClinVar

NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37047541 (on Assembly GRCh38)
• Chr3: 37089032 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)

HGVS:

• NC_000003.12:g.37047541T>C
• NG_007109.2:g.59192T>C
• NM_000249.4:c.1754T>CMANE SELECT
• NM_001167617.3:c.1460T>C
• NM_001167618.3:c.1031T>C
• NM_001167619.3:c.1031T>C
• NM_001258271.2:c.1754T>C
• NM_001258273.2:c.1031T>C
• NM_001258274.3:c.1031T>C
• NM_001354615.2:c.1031T>C
• NM_001354616.2:c.1031T>C
• NM_001354617.2:c.1031T>C
• NM_001354618.2:c.1031T>C
• NM_001354619.2:c.1031T>C
• NM_001354620.2:c.1460T>C
• NM_001354621.2:c.731T>C
• NM_001354622.2:c.731T>C
• NM_001354623.2:c.731T>C
• NM_001354624.2:c.680T>C
• NM_001354625.2:c.680T>C
• NM_001354626.2:c.680T>C
• NM_001354627.2:c.680T>C
• NM_001354628.2:c.1754T>C
• NM_001354629.2:c.1655T>C
• NM_001354630.2:c.1732-976T>C
• NP_000240.1:p.Leu585Pro
• NP_000240.1:p.Leu585Pro
• NP_001161089.1:p.Leu487Pro
• NP_001161090.1:p.Leu344Pro
• NP_001161091.1:p.Leu344Pro
• NP_001245200.1:p.Leu585Pro
• NP_001245202.1:p.Leu344Pro
• NP_001245203.1:p.Leu344Pro
• NP_001341544.1:p.Leu344Pro
• NP_001341545.1:p.Leu344Pro
• NP_001341546.1:p.Leu344Pro
• NP_001341547.1:p.Leu344Pro
• NP_001341548.1:p.Leu344Pro
• NP_001341549.1:p.Leu487Pro
• NP_001341550.1:p.Leu244Pro
• NP_001341551.1:p.Leu244Pro
• NP_001341552.1:p.Leu244Pro
• NP_001341553.1:p.Leu227Pro
• NP_001341554.1:p.Leu227Pro
• NP_001341555.1:p.Leu227Pro
• NP_001341556.1:p.Leu227Pro
• NP_001341557.1:p.Leu585Pro
• NP_001341558.1:p.Leu552Pro
• LRG_216t1:c.1754T>C
• LRG_216:g.59192T>C
• LRG_216p1:p.Leu585Pro
• NC_000003.11:g.37089032T>C
• NM_000249.3:c.1754T>C

This HGVS expression did not pass validation

Protein change:

L227P

Links:

dbSNP: rs267607865

NCBI 1000 Genomes Browser:

rs267607865

Molecular consequence:

• NM_001354630.2:c.1732-976T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000249.4:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167617.3:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167618.3:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167619.3:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258271.2:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258273.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258274.3:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354615.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354616.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354617.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354618.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354619.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354620.2:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354621.2:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354622.2:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354623.2:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354624.2:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354625.2:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354626.2:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354627.2:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354628.2:c.1754T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354629.2:c.1655T>C - missense variant - [Sequence Ontology: SO:0001583]