NM_033028.5(BBS4):c.342G>A (p.Leu114=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003852551.2
Allele description [Variation Report for NM_033028.5(BBS4):c.342G>A (p.Leu114=)]
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
Condition(s)
-
extracellular solute-binding protein, partial [Lactobacillus sp. RTP31084st1_G10...
extracellular solute-binding protein, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_210423]gi|2779505704|ref|WP_368298243.1|Protein
-
NADP-dependent malic enzyme, partial [Coprococcus sp. RTP31081st1_H1_RTP31081_21...
NADP-dependent malic enzyme, partial [Coprococcus sp. RTP31081st1_H1_RTP31081_211007]gi|2744980736|ref|WP_349824064.1|Protein
-
thiamine diphosphokinase, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_21...
thiamine diphosphokinase, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_210423]gi|2779505690|ref|WP_368298231.1|Protein
-
MAG: transglycosylase [Desulfobacteraceae bacterium 4572_35.1]
MAG: transglycosylase [Desulfobacteraceae bacterium 4572_35.1]gi|1176209600|gb|OQY20710.1||gnl|WG X|B6I36_00110Protein
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Mugil curvidens]
cytochrome c oxidase subunit I, partial (mitochondrion) [Mugil curvidens]gi|1812585197|gb|QID59222.1|Protein
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Last Updated: Sep 29, 2024