ClinVar

NM_033028.5(BBS4):c.-3A>G

Gene:

BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 72686225 (on Assembly GRCh38)
• Chr15: 72978566 (on Assembly GRCh37)

Preferred name:

NM_033028.5(BBS4):c.-3A>G

HGVS:

• NC_000015.10:g.72686225A>G
• NG_009416.2:g.5041A>G
• NM_001252678.2:c.-472A>G
• NM_001320665.2:c.-3A>G
• NM_033028.5:c.-3A>GMANE SELECT
• NC_000015.9:g.72978566A>G
• NR_045565.2:n.19A>G
• NR_045566.2:n.19A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs771900208

NCBI 1000 Genomes Browser:

rs771900208

Molecular consequence:

• NM_001252678.2:c.-472A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001320665.2:c.-3A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_033028.5:c.-3A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_045565.2:n.19A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045566.2:n.19A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1