SOS1 c.3346+27A>T Detail (hg38) (SOS1)

Information

Genome

Assembly Position
hg19 chr2:39,222,237-39,222,237 
hg38 chr2:38,995,096-38,995,096

HGVS

Type Transcript Protein
RefSeq NM_005633.3:c.3346+27A>T
Ensemble ENST00000395038.6:c.3346+27A>T
ENST00000402219.8:c.3346+27A>T
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 182530 OMIM
HGNC 11187 HGNC
Ensembl ENSG00000115904 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 colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
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
hg38
Position
chr2:38,995,096-38,995,096
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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