NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs) AND Retinitis pigmentosa
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003324677.2
Allele description [Variation Report for NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)]
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
Condition(s)
-
Fanconi anemia group J protein isoform X6 [Homo sapiens]
Fanconi anemia group J protein isoform X6 [Homo sapiens]gi|767996127|ref|XP_011523642.1|Protein
-
Homo sapiens kallikrein related peptidase 13 (KLK13), transcript variant 8, non-...
Homo sapiens kallikrein related peptidase 13 (KLK13), transcript variant 8, non-coding RNAgi|1676452752|ref|NR_145467.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024