NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) AND Bone fragility with contractures, arterial rupture, and deafness
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Sep 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000508323.12
Allele description [Variation Report for NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)]
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)
Condition(s)
- Name:
- Bone fragility with contractures, arterial rupture, and deafness
- Synonyms:
- LH3 DEFICIENCY; LYSYL HYDROXYLASE 3 DEFICIENCY; BCARD SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012892; MedGen: C2676285; OMIM: 612394
-
lutropin-choriogonadotropic hormone receptor isoform X3 [Homo sapiens]
lutropin-choriogonadotropic hormone receptor isoform X3 [Homo sapiens]gi|2462573177|ref|XP_054197987.1|Protein
-
AGENCOURT_90758858 NICHD_XGC_int_m Xenopus laevis cDNA clone IMAGE:8821594 5', m...
AGENCOURT_90758858 NICHD_XGC_int_m Xenopus laevis cDNA clone IMAGE:8821594 5', mRNA sequencegi|116715904|gnl|dbEST|42351414|gb| 321.1|Nucleotide
-
putative cytochrome P450 monooxygenase [Rhodotorula toruloides ATCC 204091]
putative cytochrome P450 monooxygenase [Rhodotorula toruloides ATCC 204091]gi|342319309|gnl|WGS:AEVR|RTG_02726 GU11258.1|Protein
-
hypothetical protein DAPPUDRAFT_309254 [Daphnia pulex]
hypothetical protein DAPPUDRAFT_309254 [Daphnia pulex]gi|321459938|gb|EFX70986.1||gnl|WGS |DAPPUDRAFT_309254Protein
-
Munidopsis corniculata voucher MNHN-IU-2013-19128 large subunit ribosomal RNA ge...
Munidopsis corniculata voucher MNHN-IU-2013-19128 large subunit ribosomal RNA gene, partial sequencegi|2259976052|gb|ON858168.1|Nucleotide
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Last Updated: Oct 20, 2024