ClinVar

NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 72736952 (on Assembly GRCh38)
• Chr15: 73029293 (on Assembly GRCh37)

Preferred name:

NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)

HGVS:

• NC_000015.10:g.72736952C>T
• NG_009416.2:g.55768C>T
• NM_001252678.2:c.923C>T
• NM_001320665.2:c.1370C>T
• NM_033028.5:c.1439C>TMANE SELECT
• NP_001239607.1:p.Thr308Met
• NP_001307594.1:p.Thr457Met
• NP_149017.2:p.Thr480Met
• NC_000015.9:g.73029293C>T
• NC_000015.9:g.73029293C>T
• NM_033028.4:c.1439C>T
• NR_045565.2:n.1518C>T
• NR_045566.2:n.1773C>T

This HGVS expression did not pass validation

Protein change:

T308M

Links:

dbSNP: rs754792792

NCBI 1000 Genomes Browser:

rs754792792

Molecular consequence:

• NM_001252678.2:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320665.2:c.1370C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033028.5:c.1439C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045565.2:n.1518C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045566.2:n.1773C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]