ClinVar

NM_000249.4(MLH1):c.45G>C (p.Val15=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993592 (on Assembly GRCh38)
• Chr3: 37035083 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.45G>C (p.Val15=)

HGVS:

• NC_000003.12:g.36993592G>C
• NG_007109.2:g.5243G>C
• NG_008418.1:g.4713C>G
• NM_000249.4:c.45G>CMANE SELECT
• NM_001167617.3:c.-472G>C
• NM_001167618.3:c.-901G>C
• NM_001167619.3:c.-814G>C
• NM_001258271.2:c.45G>C
• NM_001258273.2:c.-588G>C
• NM_001258274.3:c.-1051G>C
• NM_001354615.2:c.-582G>C
• NM_001354616.2:c.-582G>C
• NM_001354617.2:c.-674G>C
• NM_001354618.2:c.-906G>C
• NM_001354619.2:c.-1030G>C
• NM_001354620.2:c.-240G>C
• NM_001354621.2:c.-999G>C
• NM_001354622.2:c.-1112G>C
• NM_001354623.2:c.-1021G>C
• NM_001354624.2:c.-782G>C
• NM_001354625.2:c.-680G>C
• NM_001354626.2:c.-777G>C
• NM_001354627.2:c.-1009G>C
• NM_001354628.2:c.45G>C
• NM_001354629.2:c.45G>C
• NM_001354630.2:c.45G>C
• NP_000240.1:p.Val15=
• NP_000240.1:p.Val15=
• NP_001245200.1:p.Val15=
• NP_001341557.1:p.Val15=
• NP_001341558.1:p.Val15=
• NP_001341559.1:p.Val15=
• LRG_216t1:c.45G>C
• LRG_216:g.5243G>C
• LRG_216p1:p.Val15=
• NC_000003.11:g.37035083G>C
• NM_000249.3:c.45G>C
• p.Val15Val

This HGVS expression did not pass validation

Links:

dbSNP: rs768409958

NCBI 1000 Genomes Browser:

rs768409958

Molecular consequence:

• NM_001167617.3:c.-472G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-901G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-814G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-588G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-1051G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-582G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-582G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-674G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-906G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-1030G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-240G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-999G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-1112G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354623.2:c.-1021G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-782G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-680G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-777G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-1009G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000249.4:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258271.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354628.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354629.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354630.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]