NM_000287.4(PEX6):c.1367+1G>T AND Heimler syndrome 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476841.1
Allele description [Variation Report for NM_000287.4(PEX6):c.1367+1G>T]
NM_000287.4(PEX6):c.1367+1G>T
Condition(s)
-
RecName: Full=Lysophosphatidic acid receptor 2; Short=LPA receptor 2; Short=LPA-...
RecName: Full=Lysophosphatidic acid receptor 2; Short=LPA receptor 2; Short=LPA-2; AltName: Full=Lysophosphatidic acid receptor Edg-4gi|2203400731|sp|Q9HBW0.3|LPAR2_HUMProtein
-
conserved hypothetical protein [Bacillus mycoides KBAB4]
conserved hypothetical protein [Bacillus mycoides KBAB4]gi|163860502|gnl|jgi|BcerKBAB4_0295 BY41561.1|Protein
-
JGI_CAAN11088.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11088 5', mR...
JGI_CAAN11088.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11088 5', mRNA sequencegi|58716388|gnl|dbEST|27633549|gb|C 30.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023