ClinVar

NM_001199563.2(BVES):c.817-182T>C

Gene:

BVES:blood vessel epicardial substance [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 105116009 (on Assembly GRCh38)
• Chr6: 105563884 (on Assembly GRCh37)

Preferred name:

NM_001199563.2(BVES):c.817-182T>C

HGVS:

• NC_000006.12:g.105116009A>G
• NG_046732.1:g.26166T>C
• NM_001199563.2:c.817-182T>CMANE SELECT
• NM_007073.4:c.817-182T>C
• NM_147147.4:c.817-182T>C
• NC_000006.11:g.105563884A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs115745597

NCBI 1000 Genomes Browser:

rs115745597

Molecular consequence:

• NM_001199563.2:c.817-182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_007073.4:c.817-182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_147147.4:c.817-182T>C - intron variant - [Sequence Ontology: SO:0001627]