FCHSD2 FCH and double SH3 domains 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Uncertain significance | 0 | 82 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
88 |
![]() |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | NWK |
SYNONYM | NWK1 |
SYNONYM | SH3MD3 |
MIM | 617556 OMIM |
HGNC | HGNC:29114 HGNC |
Ensembl | ENSG00000137478 Ensembl |
AllianceGenome | HGNC:29114 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000311172.11 | hg38 | chr11 | 72,836,745 | 73,142,046 | 305,302 |
ENST00000458644.6 | hg38 | chr11 | 72,838,762 | 73,141,913 | 303,152 |
ENST00000409418.9 | hg38 | chr11 | 72,836,745 | 73,142,318 | 305,574 |
ENST00000409263.5 | hg38 | chr11 | 72,838,399 | 72,843,513 | 5,115 |
ENST00000409853.5 | hg38 | chr11 | 72,842,954 | 73,140,061 | 297,108 |
ENST00000409314.5 | hg38 | chr11 | 72,836,746 | 73,142,046 | 305,301 |
ENST00000311172.11 | hg19 | chr11 | 72,547,790 | 72,853,091 | 305,302 |
ENST00000409418.9 | hg19 | chr11 | 72,547,790 | 72,853,363 | 305,574 |
ENST00000409314.5 | hg19 | chr11 | 72,547,791 | 72,853,091 | 305,301 |
ENST00000409263.5 | hg19 | chr11 | 72,549,444 | 72,554,558 | 5,115 |
ENST00000458644.6 | hg19 | chr11 | 72,549,807 | 72,852,958 | 303,152 |
ENST00000409853.5 | hg19 | chr11 | 72,553,999 | 72,851,106 | 297,108 |
Genome browser