ClinVar

NM_000249.4(MLH1):c.112A>C (p.Asn38His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993659 (on Assembly GRCh38)
• Chr3: 37035150 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.112A>C (p.Asn38His)

HGVS:

• NC_000003.12:g.36993659A>C
• NG_007109.2:g.5310A>C
• NG_008418.1:g.4646T>G
• NM_000249.4:c.112A>CMANE SELECT
• NM_001167617.3:c.-405A>C
• NM_001167618.3:c.-834A>C
• NM_001167619.3:c.-747A>C
• NM_001258271.2:c.112A>C
• NM_001258273.2:c.-521A>C
• NM_001258274.3:c.-984A>C
• NM_001354615.2:c.-515A>C
• NM_001354616.2:c.-515A>C
• NM_001354617.2:c.-607A>C
• NM_001354618.2:c.-839A>C
• NM_001354619.2:c.-963A>C
• NM_001354620.2:c.-173A>C
• NM_001354621.2:c.-932A>C
• NM_001354622.2:c.-1045A>C
• NM_001354623.2:c.-954A>C
• NM_001354624.2:c.-715A>C
• NM_001354625.2:c.-613A>C
• NM_001354626.2:c.-710A>C
• NM_001354627.2:c.-942A>C
• NM_001354628.2:c.112A>C
• NM_001354629.2:c.112A>C
• NM_001354630.2:c.112A>C
• NP_000240.1:p.Asn38His
• NP_000240.1:p.Asn38His
• NP_001245200.1:p.Asn38His
• NP_001341557.1:p.Asn38His
• NP_001341558.1:p.Asn38His
• NP_001341559.1:p.Asn38His
• LRG_216t1:c.112A>C
• LRG_216:g.5310A>C
• LRG_216p1:p.Asn38His
• NC_000003.11:g.37035150A>C
• NM_000249.3:c.112A>C
• P40692:p.Asn38His
• p.N38H

This HGVS expression did not pass validation

Protein change:

N38H

Links:

UniProtKB: P40692#VAR_043389; dbSNP: rs63750580

NCBI 1000 Genomes Browser:

rs63750580

Molecular consequence:

• NM_001167617.3:c.-405A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-834A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-747A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-521A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-984A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-515A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-515A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-607A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-839A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-963A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-173A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-932A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-1045A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-954A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-715A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-613A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-710A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-942A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258271.2:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354628.2:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354629.2:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354630.2:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]