chr17:29576048:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,576,048-29,576,048
hg38 chr17:31,249,030-31,249,030 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.4021C>T NP_000258.1:p.Gln1341Ter
NM_001042492.2:c.4021C>T NP_001035957.1:p.Gln1341Ter
Ensemble ENST00000356175.7:c.4021C>T ENST00000356175.7:p.Gln1341Ter
Summary

MGeND

Clinical significance not provided
Variant entry 6
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 COSM24442 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided tail of pancreas not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-03 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline somatic Detail
Pathogenic 2020-12-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) AND not provided 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
rs137854559 dbSNP
Genome
hg19
Position
chr17:29,576,048-29,576,048
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser