NM_024101.7(MLPH):c.987del (p.Lys330fs) AND not provided
- Germline classification:
- no classifications from unflagged records (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000171507.3
Allele description [Variation Report for NM_024101.7(MLPH):c.987del (p.Lys330fs)]
NM_024101.7(MLPH):c.987del (p.Lys330fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
uncharacterized protein AT3G63050 [Arabidopsis thaliana]
uncharacterized protein AT3G63050 [Arabidopsis thaliana]gi|18412594|ref|NP_567136.1|Protein
-
daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to ...
daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to SW:RCC_XENLA P25183 REGULATOR OF CHROMOSOME CONDENSATION, mRNA sequencegi|16439554|gnl|dbEST|10021876|gb|B 80.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errorsgi|42490869|gb|BC066317.1|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 132512282) (0)
GEO Profiles
-
RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]
RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]Gene ID:55213Gene
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000221706 | Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000221706 appears to be redundant with SCV004806457. (ACMG Guidelines, 2015) | Likely pathogenic | germline | research |
Last Updated: Aug 11, 2024