ClinVar

NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp)

Gene:

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

Variant type:

Indel

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332782 - 45332783 (on Assembly GRCh38)
• Chr1: 45798454 - 45798455 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp)

HGVS:

• NC_000001.11:g.45332782_45332783delinsCA
• NG_008189.1:g.12688_12689delinsTG
• NM_001048171.2:c.472_473delinsTG
• NM_001048172.2:c.475_476delinsTG
• NM_001048173.2:c.472_473delinsTG
• NM_001048174.2:c.472_473delinsTGMANE SELECT
• NM_001128425.2:c.556_557delinsTG
• NM_001293190.2:c.517_518delinsTG
• NM_001293191.2:c.505_506delinsTG
• NM_001293192.2:c.196_197delinsTG
• NM_001293195.2:c.472_473delinsTG
• NM_001293196.2:c.196_197delinsTG
• NM_001350650.2:c.127_128delinsTG
• NM_001350651.2:c.127_128delinsTG
• NM_012222.3:c.547_548delinsTG
• NP_001041636.2:p.Leu158Trp
• NP_001041637.1:p.Leu159Trp
• NP_001041638.1:p.Leu158Trp
• NP_001041639.1:p.Leu158Trp
• NP_001121897.1:p.Leu186Trp
• NP_001280119.1:p.Leu173Trp
• NP_001280120.1:p.Leu169Trp
• NP_001280121.1:p.Leu66Trp
• NP_001280124.1:p.Leu158Trp
• NP_001280125.1:p.Leu66Trp
• NP_001337579.1:p.Leu43Trp
• NP_001337580.1:p.Leu43Trp
• NP_036354.1:p.Leu183Trp
• LRG_220:g.12688_12689delinsTG
• NC_000001.10:g.45798454_45798455delinsCA
• NM_001128425.1:c.556_557delCTinsTG
• NR_146882.2:n.700_701delinsTG
• NR_146883.2:n.549_550delinsTG

This HGVS expression did not pass validation

Protein change:

L158W

Links:

dbSNP: rs1060501337

NCBI 1000 Genomes Browser:

rs1060501337

Molecular consequence:

• NM_001048171.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.475_476delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.556_557delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.517_518delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.505_506delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.196_197delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.196_197delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.127_128delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.127_128delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.547_548delinsTG - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.700_701delinsTG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.549_550delinsTG - non-coding transcript variant - [Sequence Ontology: SO:0001619]