NM_001145252.3(CFP):c.481C>T (p.Arg161Ter)
|
SNV Germline |
ChrX:47627564 |
Pathogenic |
Properdin deficiency, X-linked |
No Assertion Criteria Provided |
CA121391 |
rs_132630258 |
1 SubmittersRCV000011931 |
NM_001145252.3(CFP):c.893G>T (p.Gly298Val)
|
SNV Germline |
ChrX:47626820 |
Pathogenic |
Properdin deficiency, X-linked |
No Assertion Criteria Provided |
CA121398 |
rs_28935480 |
1 SubmittersRCV000011933 |
NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)
|
SNV Germline |
ChrX:47627290 |
Pathogenic |
Properdin deficiency, X-linked |
No Assertion Criteria Provided |
CA121401 |
rs_132630260 |
1 SubmittersRCV000011934 |
NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp)
|
SNV Germline |
ChrX:47626062 |
Pathogenic |
Properdin deficiency, type III |
No Assertion Criteria Provided |
CA121405 |
rs_132630261 |
1 SubmittersRCV000011935 |
NM_001145252.3(CFP):c.716C>T (p.Pro239Leu)
|
SNV Germline |
ChrX:47627191 |
Conflicting classifications of pathogenicity |
Condition: not provided Properdin deficiency, X-linked |
Criteria Provided Conflicting Classifications |
|
rs_200036265 |
2 SubmittersRCV001027815RCV003224510 |
NM_001145252.3(CFP):c.767-2A>T
|
SNV Germline |
ChrX:47626948 |
Likely pathogenic |
Properdin deficiency, X-linked |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003990283 |