NM_001844.5(COL2A1):c.4074+12G>T AND Stickler syndrome type 1
- 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:
- RCV001110643.12
Allele description [Variation Report for NM_001844.5(COL2A1):c.4074+12G>T]
NM_001844.5(COL2A1):c.4074+12G>T
Condition(s)
-
Homo sapiens nudE neurodevelopment protein 1 (NDE1), RefSeqGene on chromosome 16
Homo sapiens nudE neurodevelopment protein 1 (NDE1), RefSeqGene on chromosome 16gi|296011060|ref|NG_021210.1|Nucleotide
-
Homo sapiens
Homo sapiensCelera Genomics WGS human genome sequencing projectBioProject
-
BioProject Links for Protein (Select 119623848) (1)
BioProject
-
Homo sapiens protein kinase cGMP-dependent 2 (PRKG2), transcript variant 7, mRNA
Homo sapiens protein kinase cGMP-dependent 2 (PRKG2), transcript variant 7, mRNAgi|1677537238|ref|NM_001363401.2|Nucleotide
-
eggc.vipT0H (0)
BioProject
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See more...Assertion and evidence details
Last Updated: May 19, 2024