NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) AND PRPH2-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001302351.7
Allele description [Variation Report for NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)]
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
Condition(s)
- Name:
- PRPH2-related disorder
- Synonyms:
- PRPH2-Related Disorders; PRPH2-related condition
- Identifiers:
- MedGen: CN239395
-
chitin transglycosidase, putative [Candida dubliniensis CD36]
chitin transglycosidase, putative [Candida dubliniensis CD36]gi|223642446|emb|CAX42691.1|Protein
-
KLTH0C03344p [Lachancea thermotolerans CBS 6340]
KLTH0C03344p [Lachancea thermotolerans CBS 6340]gi|238933750|emb|CAR21933.1|Protein
-
hypothetical protein NDAI_0G00300 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0G00300 [Naumovozyma dairenensis CBS 421]gi|401779868|emb|CCD25806.2|Protein
-
hypothetical protein CNAG_00596 [Cryptococcus neoformans var. grubii H99]
hypothetical protein CNAG_00596 [Cryptococcus neoformans var. grubii H99]gi|540392969|gnl|WGS:AACO|CNAG_0059 AFR92726.2|Protein
-
NADH dehydrogenase subunit 4 (mitochondrion) [Gonodactylaceus falcatus]
NADH dehydrogenase subunit 4 (mitochondrion) [Gonodactylaceus falcatus]gi|2806885852|gb|XHB32449.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024