NM_024649.5(BBS1):c.299G>A (p.Arg100Gln) AND BBS1-related condition
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003418634.4
Allele description [Variation Report for NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)]
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
Condition(s)
- Name:
- BBS1-related condition
- Identifiers:
-
txid7830[orgn] AND "isolate G6027"[All Fields] (2)
Protein
-
Saccharomyces cerevisiae gene for 26S ribosomal RNA, partial sequence, strain:NB...
Saccharomyces cerevisiae gene for 26S ribosomal RNA, partial sequence, strain:NBRC 0555gi|63003710|dbj|AB212642.1|Nucleotide
-
NADH dehydrogenase subunit 5 (mitochondrion) [Mus musculus]
NADH dehydrogenase subunit 5 (mitochondrion) [Mus musculus]gi|2581054528|dbj|BEK72017.1|Protein
-
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "TB... (1)
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "TBC1D32"[gene]SearchClinVar
-
Yeast mRNA for RNA1 (RNA transport protein)
Yeast mRNA for RNA1 (RNA transport protein)gi|4343|emb|X17376.1|Nucleotide
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Last Updated: Mar 10, 2024