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
Links
Type Database ID Link
Gene MIM 600543 OMIM
HGNC 3432 HGNC
Ensembl ENSG00000178568 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10371081 TogoVar
COSMIC COSM6928808 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2013-11-07 no assertion criteria provided amyotrophic lateral sclerosis type 19 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 AMYOTROPHIC LATERAL SCLEROSIS 19 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
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