chr1:107454484:C>T Detail (hg38) (NTNG1)

Information

Genome

Assembly Position
hg19 chr1:107,997,106-107,997,106 View the variant detail on this assembly version.
hg38 chr1:107,454,484-107,454,484

HGVS

Type Transcript Protein
RefSeq NM_001330665.1:c.1154-26127C>T
NM_001113226.2:c.1390+17685C>T
NM_014917.3:c.1088-26127C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.713
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 608818 OMIM
HGNC 23319 HGNC
Ensembl ENSG00000162631 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv2704500 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
0.132 schizophrenia This study aimed to investigate the potential association of netrin G1 (NTNG1) r... BeFree 21641949 Detail
Annotation

Annotations

DescrptionSourceLinks
This study aimed to investigate the potential association of netrin G1 (NTNG1) rs628117 and brain-de... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs628117 dbSNP
Genome
hg38
Position
chr1:107,454,484-107,454,484
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs628117
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7134
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11956
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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