NM_017934.7(PHIP):c.1137-2A>G AND PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004556015.1
Allele description [Variation Report for NM_017934.7(PHIP):c.1137-2A>G]
NM_017934.7(PHIP):c.1137-2A>G
Condition(s)
-
uncharacterized protein Dmel_CG11414 [Drosophila melanogaster]
uncharacterized protein Dmel_CG11414 [Drosophila melanogaster]gi|24762671|ref|NP_611932.2|Protein
-
Mus musculus vomeronasal 1 receptor 216 (Vmn1r216), mRNA
Mus musculus vomeronasal 1 receptor 216 (Vmn1r216), mRNAgi|21717788|ref|NM_134245.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 26, 2024