ClinVar

NM_001199563.2(BVES):c.352-288G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 105125866 (on Assembly GRCh38)
• Chr6: 105573741 (on Assembly GRCh37)

Preferred name:

NM_001199563.2(BVES):c.352-288G>A

HGVS:

• NC_000006.12:g.105125866C>T
• NG_046732.1:g.16309G>A
• NM_001199563.2:c.352-288G>AMANE SELECT
• NM_007073.4:c.352-288G>A
• NM_147147.4:c.352-288G>A
• NC_000006.11:g.105573741C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs4945716

NCBI 1000 Genomes Browser:

rs4945716

Molecular consequence:

• NM_001199563.2:c.352-288G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_007073.4:c.352-288G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_147147.4:c.352-288G>A - intron variant - [Sequence Ontology: SO:0001627]