NM_002230.4(JUP):c.509C>T (p.Ser170Leu) AND Arrhythmogenic right ventricular dysplasia 12
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000321164.5
Allele description [Variation Report for NM_002230.4(JUP):c.509C>T (p.Ser170Leu)]
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
Condition(s)
-
MULTISPECIES: thioredoxin-dependent arsenate reductase [unclassified Synechocyst...
MULTISPECIES: thioredoxin-dependent arsenate reductase [unclassified Synechocystis]gi|499175441|ref|WP_010873028.1|Protein
-
DNA-binding protein RFX8 isoform X9 [Gorilla gorilla gorilla]
DNA-binding protein RFX8 isoform X9 [Gorilla gorilla gorilla]gi|2694916164|ref|XP_063551701.1|Protein
-
PREDICTED: Homo sapiens glucokinase regulator (GCKR), transcript variant X1, mRN...
PREDICTED: Homo sapiens glucokinase regulator (GCKR), transcript variant X1, mRNAgi|2217326928|ref|XM_017003796.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024