ClinVar

NM_001048174.2(MUTYH):c.704+7T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45332384 (on Assembly GRCh38)
• Chr1: 45798056 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.704+7T>C

HGVS:

• NC_000001.11:g.45332384A>G
• NG_008189.1:g.13087T>C
• NM_001048171.2:c.704+7T>C
• NM_001048172.2:c.707+7T>C
• NM_001048173.2:c.704+7T>C
• NM_001048174.2:c.704+7T>CMANE SELECT
• NM_001128425.2:c.788+7T>C
• NM_001293190.2:c.749+7T>C
• NM_001293191.2:c.737+7T>C
• NM_001293192.2:c.428+7T>C
• NM_001293195.2:c.704+7T>C
• NM_001293196.2:c.428+7T>C
• NM_001350650.2:c.359+7T>C
• NM_001350651.2:c.359+7T>C
• NM_012222.3:c.779+7T>C
• LRG_220t1:c.788+7T>C
• LRG_220:g.13087T>C
• NC_000001.10:g.45798056A>G
• NM_001128425.1:c.788+7T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs369052315

NCBI 1000 Genomes Browser:

rs369052315

Molecular consequence:

• NM_001048171.2:c.704+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001048172.2:c.707+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001048173.2:c.704+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001048174.2:c.704+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128425.2:c.788+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293190.2:c.749+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293191.2:c.737+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293192.2:c.428+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293195.2:c.704+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293196.2:c.428+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350650.2:c.359+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350651.2:c.359+7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_012222.3:c.779+7T>C - intron variant - [Sequence Ontology: SO:0001627]