NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) AND not specified
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000327489.13
Allele description [Variation Report for NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)]
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
LOC105541223 [Mandrillus leucophaeus]
LOC105541223 [Mandrillus leucophaeus]Gene ID:105541223Gene
-
ITPKA [Canis lupus dingo]
ITPKA [Canis lupus dingo]Gene ID:112676086Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024