ClinVar

NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)

Gene:

BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

• Chr4: 122742652 (on Assembly GRCh38)
• Chr4: 123663807 (on Assembly GRCh37)

Preferred name:

NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)

HGVS:

• NC_000004.12:g.122742652G>T
• NG_021203.1:g.14951G>T
• NM_001178007.2:c.760G>T
• NM_152618.3:c.760G>TMANE SELECT
• NP_001171478.1:p.Glu254Ter
• NP_689831.2:p.Glu254Ter
• NC_000004.11:g.123663807G>T
• NM_152618.2:c.760G>T

This HGVS expression did not pass validation

Protein change:

E254*

Links:

dbSNP: rs1553941304

NCBI 1000 Genomes Browser:

rs1553941304

Molecular consequence:

• NM_001178007.2:c.760G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152618.3:c.760G>T - nonsense - [Sequence Ontology: SO:0001587]