chr7:6426892:C>T Detail (hg19) (RAC1)

Information

Genome

Assembly Position
hg19 chr7:6,426,892-6,426,892
hg38 chr7:6,387,261-6,387,261 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006908.4:c.85C>T NP_008839.2:p.Pro29Ser
NM_018890.3:c.85C>T NP_061485.1:p.Pro29Ser
Ensemble ENST00000348035.9:c.85C>T ENST00000348035.9:p.Pro29Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602048 OMIM
HGNC 9801 HGNC
Ensembl ENSG00000136238 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1167878 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
not provided 2016-03-10 no assertion provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Dabrafenib,Vemurafenib D Predictive Supports Resistance Somatic 4 25056119 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Melanoma cell lines harboring the RAC1 P29S hotspot mutation were shown to be resistant to BRAF inhi... CIViC Evidence Detail
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Melanoma ClinVar Detail
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Malignant melanoma of skin ClinVar Detail
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Squamous cell carcinoma of the skin 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
rs1057519874 dbSNP
Genome
hg19
Position
chr7:6,426,892-6,426,892
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
P29S
Transcript 1 (CIViC Variant)
ENST00000356142.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/367
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