ClinVar

NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332615 (on Assembly GRCh38)
• Chr1: 45798287 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)

HGVS:

• NC_000001.11:g.45332615G>A
• NG_008189.1:g.12856C>T
• NM_001048171.2:c.565C>T
• NM_001048172.2:c.568C>T
• NM_001048173.2:c.565C>T
• NM_001048174.2:c.565C>TMANE SELECT
• NM_001128425.2:c.649C>T
• NM_001293190.2:c.610C>T
• NM_001293191.2:c.598C>T
• NM_001293192.2:c.289C>T
• NM_001293195.2:c.565C>T
• NM_001293196.2:c.289C>T
• NM_001350650.2:c.220C>T
• NM_001350651.2:c.220C>T
• NM_012222.3:c.640C>T
• NP_001041636.1:p.Arg203Cys
• NP_001041636.2:p.Arg189Cys
• NP_001041637.1:p.Arg190Cys
• NP_001041638.1:p.Arg189Cys
• NP_001041639.1:p.Arg189Cys
• NP_001121897.1:p.Arg217Cys
• NP_001121897.1:p.Arg217Cys
• NP_001280119.1:p.Arg204Cys
• NP_001280120.1:p.Arg200Cys
• NP_001280121.1:p.Arg97Cys
• NP_001280124.1:p.Arg189Cys
• NP_001280125.1:p.Arg97Cys
• NP_001337579.1:p.Arg74Cys
• NP_001337580.1:p.Arg74Cys
• NP_036354.1:p.Arg214Cys
• LRG_220t1:c.649C>T
• LRG_220:g.12856C>T
• LRG_220p1:p.Arg217Cys
• NC_000001.10:g.45798287G>A
• NM_001048171.1:c.607C>T
• NM_001128425.1:c.649C>T
• NR_146882.2:n.793C>T
• NR_146883.2:n.642C>T
• p.R217C

This HGVS expression did not pass validation

Protein change:

R189C

Links:

dbSNP: rs537292657

NCBI 1000 Genomes Browser:

rs537292657

Molecular consequence:

• NM_001048171.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.568C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.598C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.793C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.642C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]