ClinVar

NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45331240 (on Assembly GRCh38)
• Chr1: 45796912 (on Assembly GRCh37)

Preferred name:

NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)

HGVS:

• NC_000001.11:g.45331240G>T
• NG_008189.1:g.14231C>A
• NM_001048171.1:c.1376C>A
• NM_001048172.1:c.1337C>A
• NM_001048173.1:c.1334C>A
• NM_001048174.1:c.1334C>A
• NM_001128425.1:c.1418C>A
• NM_001293190.1:c.1379C>A
• NM_001293191.1:c.1367C>A
• NM_001293192.1:c.1058C>A
• NM_001293195.1:c.1334C>A
• NM_001293196.1:c.1058C>A
• NM_001350650.1:c.989C>A
• NM_001350651.1:c.989C>A
• NM_012222.2:c.1409C>A
• NP_001041636.1:p.Ala459Asp
• NP_001041637.1:p.Ala446Asp
• NP_001041638.1:p.Ala445Asp
• NP_001041639.1:p.Ala445Asp
• NP_001121897.1:p.Ala473Asp
• NP_001280119.1:p.Ala460Asp
• NP_001280120.1:p.Ala456Asp
• NP_001280121.1:p.Ala353Asp
• NP_001280124.1:p.Ala445Asp
• NP_001280125.1:p.Ala353Asp
• NP_001337579.1:p.Ala330Asp
• NP_001337580.1:p.Ala330Asp
• NP_036354.1:p.Ala470Asp
• LRG_220t1:c.1418C>A
• LRG_220:g.14231C>A
• LRG_220p1:p.Ala473Asp
• NC_000001.10:g.45796912G>T
• NR_146882.1:n.1592C>A
• NR_146883.1:n.1406C>A

This HGVS expression did not pass validation

Protein change:

A330D

Links:

dbSNP: rs200844166

NCBI 1000 Genomes Browser:

rs200844166

Molecular consequence:

• NM_001048171.1:c.1376C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.1:c.1337C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.1:c.1418C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.1:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.1:c.1367C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.1:c.1058C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.1:c.1058C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.1:c.989C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.1:c.989C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.2:c.1409C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.1:n.1592C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.1:n.1406C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]