ClinVar

NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45329409 (on Assembly GRCh38)
• Chr1: 45795081 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)

HGVS:

• NC_000001.11:g.45329409G>A
• NG_008189.1:g.16062C>T
• NM_001048171.2:c.1463C>T
• NM_001048172.2:c.1466C>T
• NM_001048173.2:c.1463C>T
• NM_001048174.2:c.1463C>TMANE SELECT
• NM_001128425.2:c.1547C>T
• NM_001293190.2:c.1508C>T
• NM_001293191.2:c.1496C>T
• NM_001293192.2:c.1187C>T
• NM_001293195.2:c.1463C>T
• NM_001293196.2:c.1187C>T
• NM_001350650.2:c.1118C>T
• NM_001350651.2:c.1118C>T
• NM_012222.3:c.1538C>T
• NP_001041636.2:p.Pro488Leu
• NP_001041637.1:p.Pro489Leu
• NP_001041638.1:p.Pro488Leu
• NP_001041639.1:p.Pro488Leu
• NP_001121897.1:p.Pro516Leu
• NP_001121897.1:p.Pro516Leu
• NP_001280119.1:p.Pro503Leu
• NP_001280120.1:p.Pro499Leu
• NP_001280121.1:p.Pro396Leu
• NP_001280124.1:p.Pro488Leu
• NP_001280125.1:p.Pro396Leu
• NP_001337579.1:p.Pro373Leu
• NP_001337580.1:p.Pro373Leu
• NP_036354.1:p.Pro513Leu
• LRG_220t1:c.1547C>T
• LRG_220:g.16062C>T
• LRG_220p1:p.Pro516Leu
• NC_000001.10:g.45795081G>A
• NM_001128425.1:c.1547C>T
• NR_146882.2:n.1871C>T
• NR_146883.2:n.1720C>T
• p.P516L

This HGVS expression did not pass validation

Protein change:

P373L

Links:

dbSNP: rs587778542

NCBI 1000 Genomes Browser:

rs587778542

Molecular consequence:

• NM_001048171.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.1547C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.1496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.1538C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.1871C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1720C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1