Autosomal recessive congenital ichthyosis 4B
An Autosomal recessive mode(s) within the Skin disorders category
Likely pathogenic
2
Pathogenic
2
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) | Single nucleotide variant | Chr2:214966854 | Likely pathogenic | Nonsense|non-coding transcript variant | rs769753487 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_173076.3(ABCA12):c.7344-1G>C | Single nucleotide variant | Chr2:214943018 | Pathogenic | Splice acceptor variant | rs2105917562 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) | Single nucleotide variant | Chr2:214987741 | Pathogenic/Likely pathogenic | Nonsense|non-coding transcript variant | rs1452228678 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_173076.3(ABCA12):c.5939+4A>G | Single nucleotide variant | Chr2:214959020 | Likely pathogenic | Intron variant | rs1131692156 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) | Single nucleotide variant | Chr2:215045850 | Pathogenic | Nonsense|non-coding transcript variant | rs11891778 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution