ClinVar

NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45333436 (on Assembly GRCh38)
• Chr1: 45799108 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)

HGVS:

• NC_000001.11:g.45333436G>A
• NG_008189.1:g.12035C>T
• NM_001048171.2:c.241C>T
• NM_001048172.2:c.244C>T
• NM_001048173.2:c.241C>T
• NM_001048174.2:c.241C>TMANE SELECT
• NM_001128425.2:c.325C>T
• NM_001293190.2:c.286C>T
• NM_001293191.2:c.274C>T
• NM_001293192.2:c.-36C>T
• NM_001293195.2:c.241C>T
• NM_001293196.2:c.-36C>T
• NM_001350650.2:c.-31C>T
• NM_001350651.2:c.-31C>T
• NM_012222.3:c.316C>T
• NP_001041636.1:p.Arg95Trp
• NP_001041636.2:p.Arg81Trp
• NP_001041637.1:p.Arg82Trp
• NP_001041638.1:p.Arg81Trp
• NP_001041639.1:p.Arg81Trp
• NP_001121897.1:p.Arg109Trp
• NP_001121897.1:p.Arg109Trp
• NP_001280119.1:p.Arg96Trp
• NP_001280120.1:p.Arg92Trp
• NP_001280124.1:p.Arg81Trp
• NP_036354.1:p.Arg106Trp
• LRG_220t1:c.325C>T
• LRG_220:g.12035C>T
• LRG_220p1:p.Arg109Trp
• NC_000001.10:g.45799108G>A
• NM_001048171.1:c.283C>T
• NM_001128425.1:c.325C>T
• NR_146882.2:n.469C>T
• NR_146883.2:n.392C>T
• p.R109W

This HGVS expression did not pass validation

Protein change:

R106W

Links:

dbSNP: rs765123255

NCBI 1000 Genomes Browser:

rs765123255

Molecular consequence:

• NM_001293192.2:c.-36C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001293196.2:c.-36C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350650.2:c.-31C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350651.2:c.-31C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001048171.2:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.286C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.469C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.392C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]