NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) AND Bardet-Biedl syndrome 2
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001264008.5
Allele description [Variation Report for NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)]
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)
Condition(s)
-
PAS_chr4_0231 [Komagataella phaffii GS115]
PAS_chr4_0231 [Komagataella phaffii GS115]Gene ID:8200902Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024