GNAS c.*42+14263_*42+14264insCTTCGGTCGATCTGAGAGTCCCCAGCCCA Detail (hg19) (GNAS)

Information

Genome

Assembly Position
hg19 chr20:57,430,205-57,430,205
hg38 chr20:58,855,150-58,855,150 

HGVS

Type Transcript Protein
RefSeq NM_016592.3:c.*42+14263_*42+14264insCTTCGGTCGATCTGAGAGTCCCCAGCCCA
NM_001077490.2:c.1884_1885insCTTCGGTCGATCTGAGAGTCCCCAGCCCA NP_001070958.1:p.Lys629LeufsTer5
NM_080425.3:c.1884_1885insCTTCGGTCGATCTGAGAGTCCCCAGCCCA NP_536350.2:p.Lys629LeufsTer5
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 139320 OMIM
HGNC 4392 HGNC
Ensembl ENSG00000087460 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
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
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr20:57,430,205-57,430,205
Variant Type
snv
Reference Allele
-
Alternative Allele
CTTCGGTCGATCTGAGAGTCCCCAGCCCA
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