ClinVar

NM_024649.5(BBS1):c.1339+163G>A

Genes:

BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zDHHC palmitoyltransferase 24 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66526970 (on Assembly GRCh38)
• Chr11: 66294441 (on Assembly GRCh37)

Preferred name:

NM_024649.5(BBS1):c.1339+163G>A

HGVS:

• NC_000011.10:g.66526970G>A
• NG_009093.1:g.21323G>A
• NM_001348571.2:c.773C>T
• NM_024649.5:c.1339+163G>AMANE SELECT
• NP_001335500.1:p.Thr258Met
• NC_000011.9:g.66294441G>A
• NM_024649.4:c.1339+163G>A

This HGVS expression did not pass validation

Protein change:

T258M

Molecular consequence:

• NM_024649.5:c.1339+163G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348571.2:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1