ClinVar

NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45331467 (on Assembly GRCh38)
• Chr1: 45797139 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)

Other names:

p.R426C:CGT>TGT

HGVS:

• NC_000001.11:g.45331467G>A
• NG_008189.1:g.14004C>T
• NM_001048171.2:c.1192C>T
• NM_001048172.2:c.1195C>T
• NM_001048173.2:c.1192C>T
• NM_001048174.2:c.1192C>TMANE SELECT
• NM_001128425.2:c.1276C>T
• NM_001293190.2:c.1237C>T
• NM_001293191.2:c.1225C>T
• NM_001293192.2:c.916C>T
• NM_001293195.2:c.1192C>T
• NM_001293196.2:c.916C>T
• NM_001350650.2:c.847C>T
• NM_001350651.2:c.847C>T
• NM_012222.3:c.1267C>T
• NP_001041636.1:p.Arg412Cys
• NP_001041636.2:p.Arg398Cys
• NP_001041637.1:p.Arg399Cys
• NP_001041638.1:p.Arg398Cys
• NP_001041639.1:p.Arg398Cys
• NP_001121897.1:p.Arg426Cys
• NP_001121897.1:p.Arg426Cys
• NP_001280119.1:p.Arg413Cys
• NP_001280120.1:p.Arg409Cys
• NP_001280121.1:p.Arg306Cys
• NP_001280124.1:p.Arg398Cys
• NP_001280125.1:p.Arg306Cys
• NP_001337579.1:p.Arg283Cys
• NP_001337580.1:p.Arg283Cys
• NP_036354.1:p.Arg423Cys
• NP_036354.1:p.Arg423Cys
• LRG_220t1:c.1276C>T
• LRG_220:g.14004C>T
• LRG_220p1:p.Arg426Cys
• NC_000001.10:g.45797139G>A
• NM_001048171.1:c.1234C>T
• NM_001048174.1:c.1192C>T
• NM_001048174.2:c.1192C>T
• NM_001128425.1:c.1276C>T
• NM_012222.2:c.1267C>T
• NR_146882.2:n.1420C>T
• NR_146883.2:n.1269C>T
• p.R426C

This HGVS expression did not pass validation

Protein change:

R283C

Links:

dbSNP: rs150792276

NCBI 1000 Genomes Browser:

rs150792276

Molecular consequence:

• NM_001048171.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.1195C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.916C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.1192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.916C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.1420C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1269C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]