chr2:212248444:G>A Detail (hg19) (ERBB4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:212,248,444-212,248,444 |
hg38 | chr2:211,383,719-211,383,719 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005235.2:c.3823C>T | NP_005226.1:p.Arg1275Trp |
NM_001042599.1:c.3775C>T | NP_001036064.1:p.Arg1259Trp | |
Ensemble | ENST00000260943.11:c.3745C>T | ENST00000260943.11:p.Arg1249Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-04-01 | criteria provided, conflicting interpretations | not provided |
![]() |
Detail |
![]() |
2013-11-07 | no assertion criteria provided | amyotrophic lateral sclerosis type 19 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | AMYOTROPHIC LATERAL SCLEROSIS 19 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) AND not provided | ClinVar | Detail |
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) AND Amyotrophic lateral sclerosis type 19 | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs397514263 dbSNP
- Genome
- hg19
- Position
- chr2:212,248,444-212,248,444
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Allele Frequency (ExAC)
- 0.0
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs397514263
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 121294
- Allele Counts in All Race (ExAC)
- 9
- Heterozygous Counts in All Race (ExAC)
- 9
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.419987798242287E-5
Genome browser