NM_000444.6(PHEX):c.1942G>A (p.Gly648Arg) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001039487.8
Allele description [Variation Report for NM_000444.6(PHEX):c.1942G>A (p.Gly648Arg)]
NM_000444.6(PHEX):c.1942G>A (p.Gly648Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
LOC109473187 [Branchiostoma belcheri]
LOC109473187 [Branchiostoma belcheri]Gene ID:109473187Gene
-
Gene Links for GEO Profiles (Select 83233006) (1)
Gene
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MAMDC2 MAM domain containing 2 [Homo sapiens]
MAMDC2 MAM domain containing 2 [Homo sapiens]Gene ID:256691Gene
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SMC5 structural maintenance of chromosomes 5 [Homo sapiens]
SMC5 structural maintenance of chromosomes 5 [Homo sapiens]Gene ID:23137Gene
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Gene Links for GEO Profiles (Select 83233007) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024