NM_017934.7(PHIP):c.1137-2A>G AND PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- 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:
- RCV004556015.2
Allele description [Variation Report for NM_017934.7(PHIP):c.1137-2A>G]
NM_017934.7(PHIP):c.1137-2A>G
Condition(s)
-
Mus musculus kelch domain containing 2, mRNA (cDNA clone MGC:11736 IMAGE:3968615...
Mus musculus kelch domain containing 2, mRNA (cDNA clone MGC:11736 IMAGE:3968615), complete cdsgi|13542752|gb|BC005581.1|Nucleotide
-
LOC110706306 [Chenopodium quinoa]
LOC110706306 [Chenopodium quinoa]Gene ID:110706306Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024