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MSH6 R1242H
genetic variant
R1242H
ARG1242HIS
RS63750119
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No description defined
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
chromosome
human chromosome 2
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
genomic start
48033421
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
genomic end
48033421
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
biological variant of
MSH6
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
Identifiers
CIViC variant ID
767
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
dbSNP Reference SNP number
rs63750119
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000179.2:c.3725G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
NP_000170.1:p.Arg1242His
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
ENST00000234420.5:c.3725G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
NC_000002.11:g.48033421G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/767
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