NM_004646.4(NPHS1):c.526+1G>C AND Finnish congenital nephrotic syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003471227.1
Allele description [Variation Report for NM_004646.4(NPHS1):c.526+1G>C]
NM_004646.4(NPHS1):c.526+1G>C
Condition(s)
-
meiotic nuclear division protein 1 homolog isoform 1 [Homo sapiens]
meiotic nuclear division protein 1 homolog isoform 1 [Homo sapiens]gi|14149769|ref|NP_115493.1|Protein
-
Jaltomata repandidentata (1)
Taxonomy
-
BX699333 XGC-neurula Xenopus tropicalis cDNA clone TNeu115p13 3', mRNA sequence
BX699333 XGC-neurula Xenopus tropicalis cDNA clone TNeu115p13 3', mRNA sequencegi|38361540|gnl|dbEST|20415340|emb| 333.1|Nucleotide
-
db52c05.x1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
db52c05.x1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone IMAGE:3302120 3', mRNA sequencegi|10848783|gnl|dbEST|6429399|gb|BF 4.1|Nucleotide
-
db35e01.y1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
db35e01.y1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone IMAGE:3300504 5' similar to SW:HPRT_HUMAN P00492 HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE, mRNA sequencegi|8579097|gnl|dbEST|4698296|gb|BE1 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024