NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser) AND Macular corneal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331192.1
Allele description [Variation Report for NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser)]
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser)
Condition(s)
-
tumor necrosis factor receptor type 1-associated DEATH domain protein [Heterocep...
tumor necrosis factor receptor type 1-associated DEATH domain protein [Heterocephalus glaber]gi|1196719042|ref|XP_021112567.1|Protein
-
MULTISPECIES: alanine--glyoxylate aminotransferase family protein [Dehalococcoid...
MULTISPECIES: alanine--glyoxylate aminotransferase family protein [Dehalococcoides]gi|499238835|ref|WP_010936375.1|Protein
-
Ighv1-50 (0)
MeSH
-
Mus musculus DAN domain family member 5, BMP antagonist (Dand5), transcript vari...
Mus musculus DAN domain family member 5, BMP antagonist (Dand5), transcript variant 1, mRNAgi|274318370|ref|NM_201227.3|Nucleotide
-
Homo sapiens growth factor, augmenter of liver regeneration (GFER), RefSeqGene o...
Homo sapiens growth factor, augmenter of liver regeneration (GFER), RefSeqGene on chromosome 16gi|282721091|ref|NG_016288.1|Nucleotide
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Last Updated: Mar 4, 2023