ClinVar

NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

• Chr4: 122742955 (on Assembly GRCh38)
• Chr4: 123664110 (on Assembly GRCh37)

Preferred name:

NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

HGVS:

• NC_000004.12:g.122742955C>T
• NG_021203.1:g.15254C>T
• NM_001178007.2:c.1063C>T
• NM_152618.3:c.1063C>TMANE SELECT
• NP_001171478.1:p.Arg355Ter
• NP_001171478.1:p.Arg355Ter
• NP_689831.2:p.Arg355Ter
• NC_000004.11:g.123664110C>T
• NM_001178007.1:c.1063C>T
• NM_152618.2:c.1063C>T

This HGVS expression did not pass validation

Protein change:

R355*; ARG355TER

Links:

OMIM: 610683.0001; dbSNP: rs121918327

NCBI 1000 Genomes Browser:

rs121918327

Molecular consequence:

• NM_001178007.2:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152618.3:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]