chr17:29562648:T>C Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,562,648-29,562,648
hg38 chr17:31,235,630-31,235,630 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.3728T>C NP_000258.1:p.Leu1243Pro
NM_001042492.2:c.3728T>C NP_001035957.1:p.Leu1243Pro
Ensemble ENST00000356175.7:c.3728T>C ENST00000356175.7:p.Leu1243Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-08-09 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Likely pathogenic 2023-04-07 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
0.670 neurofibromatosis 1 Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). UNIPROT 15520408 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) AND not provided ClinVar Detail
NA DisGeNET Detail
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 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
rs137854564 dbSNP
Genome
hg19
Position
chr17:29,562,648-29,562,648
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser