NM_005529.7(HSPG2):c.11671+1G>T AND Lethal Kniest-like syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000985119.1
Allele description [Variation Report for NM_005529.7(HSPG2):c.11671+1G>T]
NM_005529.7(HSPG2):c.11671+1G>T
Condition(s)
-
BioSample links for Nucleotide (Select 767009127) (1)
BioSample
-
Generic sample from Saccharomyces cerevisiae YJM193
Generic sample from Saccharomyces cerevisiae YJM193biosample
-
SRA Links for BioSample (Select 31857105) (1)
SRA
-
txid31349[Organism:noexp] (19)
Identical Protein Groups
-
txid435908[Organism:noexp] (2)
BioSample
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See more...Assertion and evidence details
Last Updated: Jun 10, 2023