ClinVar

NM_024685.4(BBS10):c.1629C>T (p.Asn543=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.2

Genomic location:

• Chr12: 76346356 (on Assembly GRCh38)
• Chr12: 76740136 (on Assembly GRCh37)

Preferred name:

NM_024685.4(BBS10):c.1629C>T (p.Asn543=)

HGVS:

• NC_000012.12:g.76346356G>A
• NG_016357.1:g.7087C>T
• NM_024685.4:c.1629C>TMANE SELECT
• NP_078961.3:p.Asn543=
• LRG_1255t1:c.1629C>T
• LRG_1255:g.7087C>T
• LRG_1255p1:p.Asn543=
• NC_000012.11:g.76740136G>A
• NM_024685.3:c.1629C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145124702

NCBI 1000 Genomes Browser:

rs145124702

Molecular consequence:

• NM_024685.4:c.1629C>T - synonymous variant - [Sequence Ontology: SO:0001819]