ClinVar

NM_001048174.2(MUTYH):c.439G>T (p.Ala147Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332816 (on Assembly GRCh38)
• Chr1: 45798488 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.439G>T (p.Ala147Ser)

HGVS:

• NC_000001.11:g.45332816C>A
• NG_008189.1:g.12655G>T
• NM_001048171.2:c.439G>T
• NM_001048172.2:c.442G>T
• NM_001048173.2:c.439G>T
• NM_001048174.2:c.439G>TMANE SELECT
• NM_001128425.2:c.523G>T
• NM_001293190.2:c.484G>T
• NM_001293191.2:c.472G>T
• NM_001293192.2:c.163G>T
• NM_001293195.2:c.439G>T
• NM_001293196.2:c.163G>T
• NM_001350650.2:c.94G>T
• NM_001350651.2:c.94G>T
• NM_012222.3:c.514G>T
• NP_001041636.2:p.Ala147Ser
• NP_001041637.1:p.Ala148Ser
• NP_001041638.1:p.Ala147Ser
• NP_001041639.1:p.Ala147Ser
• NP_001121897.1:p.Ala175Ser
• NP_001121897.1:p.Ala175Ser
• NP_001280119.1:p.Ala162Ser
• NP_001280120.1:p.Ala158Ser
• NP_001280121.1:p.Ala55Ser
• NP_001280124.1:p.Ala147Ser
• NP_001280125.1:p.Ala55Ser
• NP_001337579.1:p.Ala32Ser
• NP_001337580.1:p.Ala32Ser
• NP_036354.1:p.Ala172Ser
• LRG_220t1:c.523G>T
• LRG_220:g.12655G>T
• LRG_220p1:p.Ala175Ser
• NC_000001.10:g.45798488C>A
• NM_001128425.1:c.523G>T
• NR_146882.2:n.667G>T
• NR_146883.2:n.516G>T

This HGVS expression did not pass validation

Protein change:

A147S

Links:

dbSNP: rs770478980

NCBI 1000 Genomes Browser:

rs770478980

Molecular consequence:

• NM_001048171.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.442G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.523G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.484G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.472G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.94G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.94G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.514G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.667G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.516G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]