ClinVar

NM_033028.5(BBS4):c.864G>A (p.Ala288=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 72731457 (on Assembly GRCh38)
• Chr15: 73023798 (on Assembly GRCh37)

Preferred name:

NM_033028.5(BBS4):c.864G>A (p.Ala288=)

HGVS:

• NC_000015.10:g.72731457G>A
• NG_009416.2:g.50273G>A
• NM_001252678.2:c.348G>A
• NM_001320665.2:c.795G>A
• NM_033028.5:c.864G>AMANE SELECT
• NP_001239607.1:p.Ala116=
• NP_001307594.1:p.Ala265=
• NP_149017.2:p.Ala288=
• NC_000015.9:g.73023798G>A
• NM_033028.4:c.864G>A
• NR_045565.2:n.943G>A
• NR_045566.2:n.1198G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs141345544

NCBI 1000 Genomes Browser:

rs141345544

Molecular consequence:

• NR_045565.2:n.943G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045566.2:n.1198G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001252678.2:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320665.2:c.795G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033028.5:c.864G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1