chr17:29490349:T>C Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,490,349-29,490,349
hg38 chr17:31,163,331-31,163,331 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.434T>C NP_001035957.1:p.Leu145Pro
NM_001128147.2:c.434T>C NP_001121619.1:p.Leu145Pro
NM_000267.3:c.434T>C NP_000258.1:p.Leu145Pro
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Pathogenic 2024-01-09 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 Automated comparative sequence analysis identifies mutations in 89% of NF1 patie... UNIPROT 15060124 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro) AND Neurofibromatosis, type 1 ClinVar Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m... 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
rs199474734 dbSNP
Genome
hg19
Position
chr17:29,490,349-29,490,349
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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