NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) AND RPGRIP1L-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004733228.1
Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)]
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
Condition(s)
- Name:
- RPGRIP1L-related disorder
- Synonyms:
- RPGRIP1L-Related Disorders; RPGRIP1L-related condition
- Identifiers:
- MedGen: CN239416
-
Homo sapiens DMRT like family C1 (DMRTC1), transcript variant 4, non-coding RNA
Homo sapiens DMRT like family C1 (DMRTC1), transcript variant 4, non-coding RNAgi|1904926806|ref|NR_170342.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024