chr1:236021631:T>C Detail (hg38) (NID1)

Information

Genome

Assembly Position
hg19 chr1:236,184,931-236,184,931 View the variant detail on this assembly version.
hg38 chr1:236,021,631-236,021,631

HGVS

Type Transcript Protein
RefSeq NM_002508.2:c.2128+2439A>G
Ensemble ENST00000264187.7:c.2128+2439A>G
ENST00000366595.7:c.2128+2439A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.700
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131390 OMIM
HGNC 7821 HGNC
Ensembl ENSG00000116962 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5265789 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Melanocytic nevus of skin We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Melanocytic nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
<0.001 Benign melanocytic nevus We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two... BeFree 21478494 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail
We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucle... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10754833 dbSNP
Genome
hg38
Position
chr1:236,021,631-236,021,631
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs10754833
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6998
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11728
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser