ClinVar

NM_000249.4(MLH1):c.114C>T (p.Asn38=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993661 (on Assembly GRCh38)
• Chr3: 37035152 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.114C>T (p.Asn38=)

HGVS:

• NC_000003.12:g.36993661C>T
• NG_007109.2:g.5312C>T
• NG_008418.1:g.4644G>A
• NM_000249.4:c.114C>TMANE SELECT
• NM_001167617.3:c.-403C>T
• NM_001167618.3:c.-832C>T
• NM_001167619.3:c.-745C>T
• NM_001258271.2:c.114C>T
• NM_001258273.2:c.-519C>T
• NM_001258274.3:c.-982C>T
• NM_001354615.2:c.-513C>T
• NM_001354616.2:c.-513C>T
• NM_001354617.2:c.-605C>T
• NM_001354618.2:c.-837C>T
• NM_001354619.2:c.-961C>T
• NM_001354620.2:c.-171C>T
• NM_001354621.2:c.-930C>T
• NM_001354622.2:c.-1043C>T
• NM_001354623.2:c.-952C>T
• NM_001354624.2:c.-713C>T
• NM_001354625.2:c.-611C>T
• NM_001354626.2:c.-708C>T
• NM_001354627.2:c.-940C>T
• NM_001354628.2:c.114C>T
• NM_001354629.2:c.114C>T
• NM_001354630.2:c.114C>T
• NP_000240.1:p.Asn38=
• NP_000240.1:p.Asn38=
• NP_001245200.1:p.Asn38=
• NP_001341557.1:p.Asn38=
• NP_001341558.1:p.Asn38=
• NP_001341559.1:p.Asn38=
• LRG_216t1:c.114C>T
• LRG_216:g.5312C>T
• LRG_216p1:p.Asn38=
• NC_000003.11:g.37035152C>T
• NM_000249.3:c.114C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs267607706

NCBI 1000 Genomes Browser:

rs267607706

Molecular consequence:

• NM_001167617.3:c.-403C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-832C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-745C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-519C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-982C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-513C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-513C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-605C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-837C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-961C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-171C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-930C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-1043C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-952C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-713C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-611C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-708C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-940C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258271.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354628.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354629.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354630.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]