NM_024649.5(BBS1):c.1564del (p.Leu522fs) AND Bardet-Biedl syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003464263.1
Allele description [Variation Report for NM_024649.5(BBS1):c.1564del (p.Leu522fs)]
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
Condition(s)
-
MedGen for PubMed (Select 10561185) (1)
MedGen
-
Sjogren syndrome
Sjogren syndromeMedGen
-
MedGen for PubMed (Select 3718551) (1)
MedGen
-
Chin with H-shaped crease
Chin with H-shaped creaseMedGen
-
Nucleotide (RefSeq) Links for PubMed (Select 26526450) (4)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 29, 2024