ClinVar

NM_000249.4(MLH1):c.195C>T (p.Gly65=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36996697 (on Assembly GRCh38)
• Chr3: 37038188 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.195C>T (p.Gly65=)

HGVS:

• NC_000003.12:g.36996697C>T
• NG_007109.2:g.8348C>T
• NG_008418.1:g.1608G>A
• NM_000249.4:c.195C>TMANE SELECT
• NM_001167617.3:c.-95C>T
• NM_001167618.3:c.-529C>T
• NM_001167619.3:c.-437C>T
• NM_001258271.2:c.195C>T
• NM_001258273.2:c.-517+3034C>T
• NM_001258274.3:c.-674C>T
• NM_001354615.2:c.-432C>T
• NM_001354616.2:c.-437C>T
• NM_001354617.2:c.-529C>T
• NM_001354618.2:c.-529C>T
• NM_001354619.2:c.-529C>T
• NM_001354620.2:c.-95C>T
• NM_001354621.2:c.-622C>T
• NM_001354622.2:c.-735C>T
• NM_001354623.2:c.-723+2807C>T
• NM_001354624.2:c.-632C>T
• NM_001354625.2:c.-535C>T
• NM_001354626.2:c.-632C>T
• NM_001354627.2:c.-632C>T
• NM_001354628.2:c.195C>T
• NM_001354629.2:c.195C>T
• NM_001354630.2:c.195C>T
• NP_000240.1:p.Gly65=
• NP_000240.1:p.Gly65=
• NP_001245200.1:p.Gly65=
• NP_001341557.1:p.Gly65=
• NP_001341558.1:p.Gly65=
• NP_001341559.1:p.Gly65=
• LRG_216t1:c.195C>T
• LRG_216:g.8348C>T
• LRG_216p1:p.Gly65=
• NC_000003.11:g.37038188C>T
• NM_000249.3:c.195C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2125711645

NCBI 1000 Genomes Browser:

rs2125711645

Molecular consequence:

• NM_001167617.3:c.-95C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167618.3:c.-529C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001167619.3:c.-437C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258274.3:c.-674C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354615.2:c.-432C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354616.2:c.-437C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354617.2:c.-529C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354618.2:c.-529C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354619.2:c.-529C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354620.2:c.-95C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354621.2:c.-622C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354622.2:c.-735C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354624.2:c.-632C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354625.2:c.-535C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354626.2:c.-632C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354627.2:c.-632C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001258273.2:c.-517+3034C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354623.2:c.-723+2807C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000249.4:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258271.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354628.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354629.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354630.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]