ClinVar

NM_001170.3(AQP7):c.406+2T>C

Genes:

LOC126860614:BRD4-independent group 4 enhancer GRCh37_chr9:33385863-33387062 [Gene]
AQP7:aquaporin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 33386402 (on Assembly GRCh38)
• Chr9: 33386400 (on Assembly GRCh37)

Preferred name:

NM_001170.3(AQP7):c.406+2T>C

HGVS:

• NC_000009.12:g.33386402A>G
• NG_027764.1:g.21118T>C
• NG_085114.1:g.638A>G
• NM_001170.3:c.406+2T>CMANE SELECT
• NM_001318156.2:c.235+2T>C
• NM_001318157.2:c.403+2T>C
• NM_001318158.2:c.406+2T>C
• NM_001376191.1:c.406+2T>C
• NM_001376192.1:c.406+2T>C
• NM_001376193.1:c.406+2T>C
• NC_000009.11:g.33386400A>G
• NM_001170.1:c.406+2T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs771895202

NCBI 1000 Genomes Browser:

rs771895202

Molecular consequence:

• NM_001170.3:c.406+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001318156.2:c.235+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001318157.2:c.403+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001318158.2:c.406+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001376191.1:c.406+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001376192.1:c.406+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001376193.1:c.406+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]