chr17:31232083:C>T Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,559,101-29,559,101 View the variant detail on this assembly version.
hg38 chr17:31,232,083-31,232,083

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.3208C>T NP_000258.1:p.Gln1070Ter
NM_001042492.2:c.3208C>T NP_001035957.1:p.Gln1070Ter
Ensemble ENST00000356175.7:c.3208C>T ENST00000356175.7:p.Gln1070Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613113 OMIM
HGNC 7765 HGNC
Ensembl ENSG00000196712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3515852 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-18 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter) AND Hereditary cancer-predisposing syndrome 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
rs786202023 dbSNP
Genome
hg38
Position
chr17:31,232,083-31,232,083
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser