ClinVar

NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45331194 (on Assembly GRCh38)
• Chr1: 45796866 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)

HGVS:

• NC_000001.11:g.45331194G>A
• NG_008189.1:g.14277C>T
• NM_001048171.2:c.1380C>T
• NM_001048172.2:c.1383C>T
• NM_001048173.2:c.1380C>T
• NM_001048174.2:c.1380C>TMANE SELECT
• NM_001128425.2:c.1464C>T
• NM_001293190.2:c.1425C>T
• NM_001293191.2:c.1413C>T
• NM_001293192.2:c.1104C>T
• NM_001293195.2:c.1380C>T
• NM_001293196.2:c.1104C>T
• NM_001350650.2:c.1035C>T
• NM_001350651.2:c.1035C>T
• NM_012222.3:c.1455C>T
• NP_001041636.2:p.Thr460=
• NP_001041637.1:p.Thr461=
• NP_001041638.1:p.Thr460=
• NP_001041639.1:p.Thr460=
• NP_001121897.1:p.Thr488=
• NP_001121897.1:p.Thr488=
• NP_001280119.1:p.Thr475=
• NP_001280120.1:p.Thr471=
• NP_001280121.1:p.Thr368=
• NP_001280124.1:p.Thr460=
• NP_001280125.1:p.Thr368=
• NP_001337579.1:p.Thr345=
• NP_001337580.1:p.Thr345=
• NP_036354.1:p.Thr485=
• LRG_220t1:c.1464C>T
• LRG_220:g.14277C>T
• LRG_220p1:p.Thr488=
• NC_000001.10:g.45796866G>A
• NM_001128425.1:c.1464C>T
• NR_146882.2:n.1608C>T
• NR_146883.2:n.1457C>T
• p.T488T

This HGVS expression did not pass validation

Links:

dbSNP: rs373973053

NCBI 1000 Genomes Browser:

rs373973053

Molecular consequence:

• NR_146882.2:n.1608C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1457C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001048171.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001048172.2:c.1383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001048173.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001048174.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128425.2:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293190.2:c.1425C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293191.2:c.1413C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293192.2:c.1104C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293195.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293196.2:c.1104C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350650.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350651.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012222.3:c.1455C>T - synonymous variant - [Sequence Ontology: SO:0001819]