NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) AND Nephrotic syndrome, type 2
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411511.4
Allele description [Variation Report for NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)]
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)
Condition(s)
-
JGI_XZG62305.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7576227 3'...
JGI_XZG62305.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7576227 3', mRNA sequencegi|57247467|gnl|dbEST|27053510|gb|C 47.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024