ClinVar

NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45329356 (on Assembly GRCh38)
• Chr1: 45795028 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)

Other names:

p.R534W:CGG>TGG

HGVS:

• NC_000001.11:g.45329356G>A
• NG_008189.1:g.16115C>T
• NM_001048171.2:c.1516C>T
• NM_001048172.2:c.1519C>T
• NM_001048173.2:c.1516C>T
• NM_001048174.2:c.1516C>TMANE SELECT
• NM_001128425.2:c.1600C>T
• NM_001293190.2:c.1561C>T
• NM_001293191.2:c.1549C>T
• NM_001293192.2:c.1240C>T
• NM_001293195.2:c.1516C>T
• NM_001293196.2:c.1240C>T
• NM_001350650.2:c.1171C>T
• NM_001350651.2:c.1171C>T
• NM_012222.3:c.1591C>T
• NP_001041636.2:p.Arg506Trp
• NP_001041637.1:p.Arg507Trp
• NP_001041638.1:p.Arg506Trp
• NP_001041639.1:p.Arg506Trp
• NP_001121897.1:p.Arg534Trp
• NP_001121897.1:p.Arg534Trp
• NP_001280119.1:p.Arg521Trp
• NP_001280120.1:p.Arg517Trp
• NP_001280121.1:p.Arg414Trp
• NP_001280124.1:p.Arg506Trp
• NP_001280125.1:p.Arg414Trp
• NP_001337579.1:p.Arg391Trp
• NP_001337580.1:p.Arg391Trp
• NP_036354.1:p.Arg531Trp
• NP_036354.1:p.Arg531Trp
• LRG_220t1:c.1600C>T
• LRG_220:g.16115C>T
• LRG_220p1:p.Arg534Trp
• NC_000001.10:g.45795028G>A
• NM_001128425.1:c.1600C>T
• NM_012222.2:c.1591C>T
• NR_146882.2:n.1924C>T
• NR_146883.2:n.1773C>T

This HGVS expression did not pass validation

Protein change:

R391W

Links:

dbSNP: rs144616312

NCBI 1000 Genomes Browser:

rs144616312

Molecular consequence:

• NM_001048171.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.1519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.1600C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.1561C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.1549C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.1240C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.1240C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.1171C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.1171C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.1591C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.1924C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1773C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]