chr17:29527461:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,527,461-29,527,461
hg38 chr17:31,200,443-31,200,443 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001128147.2:c.910C>T NP_001121619.1:p.Arg304Ter
NM_001042492.2:c.910C>T NP_001035957.1:p.Arg304Ter
NM_000267.3:c.910C>T NP_000258.1:p.Arg304Ter
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 3
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 COSM24486 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
Pathogenic Carcinoma unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
Pathogenic 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-12-26 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-10 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline inherited unknown Detail
Pathogenic 2018-08-15 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-08-08 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-02-12 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2022-03-12 criteria provided, single submitter Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis unknown Detail
Pathogenic 2022-03-12 criteria provided, single submitter Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis unknown Detail
Pathogenic 2022-03-12 criteria provided, single submitter Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis unknown Detail
Pathogenic 2022-03-12 criteria provided, single submitter Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis unknown Detail
Pathogenic 2022-03-12 criteria provided, single submitter Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis unknown Detail
Pathogenic 2023-02-15 criteria provided, single submitter NF1-related disorder 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.910C>T (p.Arg304Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) AND NF1-related disorder 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
rs786203950 dbSNP
Genome
hg19
Position
chr17:29,527,461-29,527,461
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser