ClinVar

NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45330550 (on Assembly GRCh38)
• Chr1: 45796222 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)

HGVS:

• NC_000001.11:g.45330550C>T
• NG_008189.1:g.14921G>A
• NM_001048171.2:c.1400G>A
• NM_001048172.2:c.1403G>A
• NM_001048173.2:c.1400G>A
• NM_001048174.2:c.1400G>AMANE SELECT
• NM_001128425.2:c.1484G>A
• NM_001293190.2:c.1445G>A
• NM_001293191.2:c.1433G>A
• NM_001293192.2:c.1124G>A
• NM_001293195.2:c.1400G>A
• NM_001293196.2:c.1124G>A
• NM_001350650.2:c.1055G>A
• NM_001350651.2:c.1055G>A
• NM_012222.3:c.1475G>A
• NP_001041636.1:p.Arg481His
• NP_001041636.2:p.Arg467His
• NP_001041637.1:p.Arg468His
• NP_001041638.1:p.Arg467His
• NP_001041639.1:p.Arg467His
• NP_001121897.1:p.Arg495His
• NP_001121897.1:p.Arg495His
• NP_001280119.1:p.Arg482His
• NP_001280120.1:p.Arg478His
• NP_001280121.1:p.Arg375His
• NP_001280124.1:p.Arg467His
• NP_001280125.1:p.Arg375His
• NP_001337579.1:p.Arg352His
• NP_001337580.1:p.Arg352His
• NP_036354.1:p.Arg492His
• LRG_220t1:c.1484G>A
• LRG_220:g.14921G>A
• LRG_220p1:p.Arg495His
• NC_000001.10:g.45796222C>T
• NM_001048171.1:c.1442G>A
• NM_001128425.1:c.1484G>A
• NR_146882.2:n.1628G>A
• NR_146883.2:n.1477G>A
• p.R495H

This HGVS expression did not pass validation

Protein change:

R352H

Links:

dbSNP: rs144111588

NCBI 1000 Genomes Browser:

rs144111588

Molecular consequence:

• NM_001048171.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.1445G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.1475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.1628G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1477G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1