ClinVar

NM_024649.5(BBS1):c.830+3A>G

Genes:

BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zDHHC palmitoyltransferase 24 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66521379 (on Assembly GRCh38)
• Chr11: 66288850 (on Assembly GRCh37)

Preferred name:

NM_024649.5(BBS1):c.830+3A>G

HGVS:

• NC_000011.10:g.66521379A>G
• NG_009093.1:g.15732A>G
• NM_001348571.2:c.*109T>C
• NM_024649.5:c.830+3A>GMANE SELECT
• NC_000011.9:g.66288850A>G
• NM_024649.4:c.830+3A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs747229201

NCBI 1000 Genomes Browser:

rs747229201

Molecular consequence:

• NM_001348571.2:c.*109T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_024649.5:c.830+3A>G - intron variant - [Sequence Ontology: SO:0001627]