chr17:29587460:G>A Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,587,460-29,587,460
hg38 chr17:31,260,442-31,260,442 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.4504G>A NP_001035957.1:p.Gly1502Ser
NM_000267.3:c.4441G>A NP_000258.1:p.Gly1481Ser
Ensemble ENST00000358273.9:c.4504G>A ENST00000358273.9:p.Gly1502Ser
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM6906344 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2015-06-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-09-01 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Uncertain significance 2022-05-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2022-05-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2022-05-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2022-05-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
Uncertain significance 2022-05-11 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) AND multiple conditions ClinVar 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
rs876659607 dbSNP
Genome
hg19
Position
chr17:29,587,460-29,587,460
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser