NM_033028.5(BBS4):c.412del (p.Ser138fs) AND Bardet-Biedl syndrome 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004574028.1
Allele description [Variation Report for NM_033028.5(BBS4):c.412del (p.Ser138fs)]
NM_033028.5(BBS4):c.412del (p.Ser138fs)
Condition(s)
-
collagenase [Brevibacillus porteri]
collagenase [Brevibacillus porteri]gi|1371933389|ref|WP_106835716.1|Protein
-
RGD67-1
RGD67-1biosample
-
leucine-rich repeat transmembrane protein FLRT2 isoform X1 [Homo sapiens]
leucine-rich repeat transmembrane protein FLRT2 isoform X1 [Homo sapiens]gi|2217481772|ref|XP_047302307.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024