ClinVar

NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332678 (on Assembly GRCh38)
• Chr1: 45798350 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys)

HGVS:

• NC_000001.11:g.45332678C>T
• NG_008189.1:g.12793G>A
• NM_001048171.2:c.502G>A
• NM_001048172.2:c.505G>A
• NM_001048173.2:c.502G>A
• NM_001048174.2:c.502G>AMANE SELECT
• NM_001128425.2:c.586G>A
• NM_001293190.2:c.547G>A
• NM_001293191.2:c.535G>A
• NM_001293192.2:c.226G>A
• NM_001293195.2:c.502G>A
• NM_001293196.2:c.226G>A
• NM_001350650.2:c.157G>A
• NM_001350651.2:c.157G>A
• NM_012222.3:c.577G>A
• NP_001041636.2:p.Glu168Lys
• NP_001041637.1:p.Glu169Lys
• NP_001041638.1:p.Glu168Lys
• NP_001041639.1:p.Glu168Lys
• NP_001121897.1:p.Glu196Lys
• NP_001280119.1:p.Glu183Lys
• NP_001280120.1:p.Glu179Lys
• NP_001280121.1:p.Glu76Lys
• NP_001280124.1:p.Glu168Lys
• NP_001280125.1:p.Glu76Lys
• NP_001337579.1:p.Glu53Lys
• NP_001337580.1:p.Glu53Lys
• NP_036354.1:p.Glu193Lys
• LRG_220t1:c.586G>A
• LRG_220:g.12793G>A
• NC_000001.10:g.45798350C>T
• NM_001128425.1:c.586G>A
• NR_146882.2:n.730G>A
• NR_146883.2:n.579G>A

This HGVS expression did not pass validation

Protein change:

E168K

Links:

dbSNP: rs745921592

NCBI 1000 Genomes Browser:

rs745921592

Molecular consequence:

• NM_001048171.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.730G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.579G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]