NM_033028.5(BBS4):c.1263T>G (p.Ala421=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003633384.2
Allele description [Variation Report for NM_033028.5(BBS4):c.1263T>G (p.Ala421=)]
NM_033028.5(BBS4):c.1263T>G (p.Ala421=)
Condition(s)
-
MULTISPECIES: carboxylate/amino acid/amine transporter [unclassified Escherichia...
MULTISPECIES: carboxylate/amino acid/amine transporter [unclassified Escherichia]gi|585375787|ref|WP_024257336.1|Protein
-
peptidoglycan-binding domain-containing protein, partial [Brevibacillus porteri]
peptidoglycan-binding domain-containing protein, partial [Brevibacillus porteri]gi|2663240269|ref|WP_328224336.1|Protein
-
cytochrome b (mitochondrion) [Paroaria capitata]
cytochrome b (mitochondrion) [Paroaria capitata]gi|255733254|gb|ACU31080.1|Protein
-
K121921
K121921biosample
-
K081221
K081221biosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024