ClinVar

NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)

Genes:

BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66526781 (on Assembly GRCh38)
• Chr11: 66294252 (on Assembly GRCh37)

Preferred name:

NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)

HGVS:

• NC_000011.10:g.66526781C>G
• NG_009093.1:g.21134C>G
• NM_001348571.2:c.*21+155G>C
• NM_024649.5:c.1313C>GMANE SELECT
• NP_078925.3:p.Thr438Arg
• NC_000011.9:g.66294252C>G
• NM_024649.4:c.1313C>G

This HGVS expression did not pass validation

Protein change:

T438R

Links:

dbSNP: rs199711874

NCBI 1000 Genomes Browser:

rs199711874

Molecular consequence:

• NM_001348571.2:c.*21+155G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_024649.5:c.1313C>G - missense variant - [Sequence Ontology: SO:0001583]