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RUNX1 T148HFSX9
genetic variant
T148HFSX9
C.442_449DEL
THR148HISFSX9
RS587776811
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Statements
instance of
Frameshift Truncation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
chromosome
human chromosome 21
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
genomic start
36252913
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
genomic end
36252920
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
biological variant of
RUNX1
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
Identifiers
CIViC variant ID
810
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
dbSNP Reference SNP number
rs587776811
1 reference
stated in
CIViC database
HGVS nomenclature
NM_001754.4:c.442_449delACCGCAGC
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
NP_001745.2:p.Thr148Hisfs
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
NC_000021.8:g.36252913_36252920del
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
ENST00000300305.3:c.442_449delACCGCAGC
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/810
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