ClinVar

NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332767 (on Assembly GRCh38)
• Chr1: 45798439 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)

Other names:

p.R191Q:CGG>CAG

HGVS:

• NC_000001.11:g.45332767C>T
• NG_008189.1:g.12704G>A
• NM_001048171.2:c.488G>A
• NM_001048172.2:c.491G>A
• NM_001048173.2:c.488G>A
• NM_001048174.2:c.488G>AMANE SELECT
• NM_001128425.2:c.572G>A
• NM_001293190.2:c.533G>A
• NM_001293191.2:c.521G>A
• NM_001293192.2:c.212G>A
• NM_001293195.2:c.488G>A
• NM_001293196.2:c.212G>A
• NM_001350650.2:c.143G>A
• NM_001350651.2:c.143G>A
• NM_012222.3:c.563G>A
• NP_001041636.1:p.Arg177Gln
• NP_001041636.2:p.Arg163Gln
• NP_001041637.1:p.Arg164Gln
• NP_001041638.1:p.Arg163Gln
• NP_001041639.1:p.Arg163Gln
• NP_001121897.1:p.Arg191Gln
• NP_001121897.1:p.Arg191Gln
• NP_001280119.1:p.Arg178Gln
• NP_001280120.1:p.Arg174Gln
• NP_001280121.1:p.Arg71Gln
• NP_001280124.1:p.Arg163Gln
• NP_001280125.1:p.Arg71Gln
• NP_001337579.1:p.Arg48Gln
• NP_001337580.1:p.Arg48Gln
• NP_036354.1:p.Arg188Gln
• LRG_220t1:c.572G>A
• LRG_220:g.12704G>A
• LRG_220p1:p.Arg191Gln
• NC_000001.10:g.45798439C>T
• NM_001048171.1:c.530G>A
• NM_001128425.1:c.572G>A
• NR_146882.2:n.716G>A
• NR_146883.2:n.565G>A
• p.R191Q

This HGVS expression did not pass validation

Protein change:

R163Q

Links:

dbSNP: rs369677603

NCBI 1000 Genomes Browser:

rs369677603

Molecular consequence:

• NM_001048171.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.572G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.716G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.565G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]