ClinVar

NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)

Gene:

BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.2

Genomic location:

• Chr12: 76346721 (on Assembly GRCh38)
• Chr12: 76740501 (on Assembly GRCh37)

Preferred name:

NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)

HGVS:

• NC_000012.12:g.76346721G>A
• NG_016357.1:g.6722C>T
• NM_024685.4:c.1264C>TMANE SELECT
• NP_078961.3:p.Arg422Trp
• LRG_1255t1:c.1264C>T
• LRG_1255:g.6722C>T
• LRG_1255p1:p.Arg422Trp
• NC_000012.11:g.76740501G>A
• NM_024685.3:c.1264C>T

This HGVS expression did not pass validation

Protein change:

R422W

Links:

dbSNP: rs375746803

NCBI 1000 Genomes Browser:

rs375746803

Molecular consequence:

• NM_024685.4:c.1264C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1