ClinVar

NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 72735160 (on Assembly GRCh38)
• Chr15: 73027501 (on Assembly GRCh37)

Preferred name:

NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)

HGVS:

• NC_000015.10:g.72735160G>A
• NG_009416.2:g.53976G>A
• NM_001252678.2:c.568G>A
• NM_001320665.2:c.1015G>A
• NM_033028.5:c.1084G>AMANE SELECT
• NP_001239607.1:p.Ala190Thr
• NP_001307594.1:p.Ala339Thr
• NP_149017.2:p.Ala362Thr
• NC_000015.9:g.73027501G>A
• NM_033028.4:c.1084G>A
• NR_045565.2:n.1163G>A
• NR_045566.2:n.1418G>A

This HGVS expression did not pass validation

Protein change:

A190T

Links:

dbSNP: rs969384648

NCBI 1000 Genomes Browser:

rs969384648

Molecular consequence:

• NM_001252678.2:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320665.2:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033028.5:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045565.2:n.1163G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045566.2:n.1418G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]