NM_001370658.1(BTD):c.1014T>C (p.His338=) AND Biotinidase deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000871677.19
Allele description [Variation Report for NM_001370658.1(BTD):c.1014T>C (p.His338=)]
NM_001370658.1(BTD):c.1014T>C (p.His338=)
Condition(s)
-
YNR013C (0)
SRA
-
DC107340 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC107340 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone xl245d18 5', mRNA sequencegi|119091646|gnl|dbEST|43361760|dbj 7340.1|Nucleotide
-
NDUFB2 [Puma concolor]
NDUFB2 [Puma concolor]Gene ID:112866888Gene
-
CBXT2436.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8884475 5', mR...
CBXT2436.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8884475 5', mRNA sequencegi|133805820|gnl|dbEST|45235424|gb| 464.1|Nucleotide
-
BJ046589 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clon...
BJ046589 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clone XL007n14 3', mRNA sequencegi|17405836|gnl|dbEST|10492112|dbj| 589.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024