ZFPM2-AS1
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 46,XY sex reversal 9 (142 variants)
- not provided (62 variants)
- Inborn genetic diseases (28 variants)
- not specified (25 variants)
- Diaphragmatic hernia 3 (9 variants)
- Tetralogy of Fallot (8 variants)
- 46,XY sex reversal 3 (8 variants)
- ZFPM2-related condition (7 variants)
- Double outlet right ventricle (3 variants)
- 46,XY sex reversal 9;Diaphragmatic hernia 3;Tetralogy of Fallot (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFPM2-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 113 | 69 | 29 | 225 | ||
Total | 9 | 5 | 113 | 69 | 29 |
Highest pathogenic variant AF is 0.0000329
GnomAD
Source:
dbNSFP
Source: