RGD:407487933 Rat Genome Database
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Summary
ClinVar Data
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Variant: RGD:407487933 - Homo sapiens
RGD ID:
407487933
ClinVar ID:
CV3421071
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
ZSCAN5A
Reference Nucleotide:
T
Variant Nucleotide:
C
Position
Assembly
Chr
Position
GRCh37
19
56,736,130
GRCh38
19
56,224,761
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001322061.4:c.286A>G
NM_001322062.2:c.286A>G
NM_001322064.3:c.286A>G
NM_001322065.3:c.286A>G
NM_001322066.2:c.286A>G
NM_001322067.2:c.286A>G
NM_001322068.2:c.286A>G
NM_001322070.2:c.286A>G
NM_001322072.3:c.286A>G
NM_001322073.2:c.286A>G
NM_001322074.2:c.286A>G
NM_001322075.2:c.286A>G
NM_001322076.2:c.286A>G
NM_001387853.1:c.286A>G
NM_001387854.1:c.286A>G
NM_001387855.1:c.286A>G
NM_001387856.1:c.286A>G
NM_001387857.1:c.286A>G
NM_001387858.1:c.286A>G
NM_001387859.1:c.286A>G
NM_024303.4:c.286A>G
NM_001322077.3:c.34-927A>G
NM_001322078.3:c.34-966A>G
NC_000019.10:g.56224761T>C
NC_000019.9:g.56736130T>C
NM_024303.1:c.286A>G
NP_001308993.1:p.Met96Val
NP_001308994.1:p.Met96Val
NP_001308995.1:p.Met96Val
NP_001308996.1:p.Met96Val
NP_001308997.1:p.Met96Val
NP_001308999.1:p.Met96Val
NP_001309001.1:p.Met96Val
NP_001309002.1:p.Met96Val
NP_001309003.1:p.Met96Val
NP_001309004.1:p.Met96Val
NP_001309005.1:p.Met96Val
NP_001374782.1:p.Met96Val
NP_001374783.1:p.Met96Val
NP_001374784.1:p.Met96Val
NP_001374785.1:p.Met96Val
NP_001374786.1:p.Met96Val
NP_001374787.1:p.Met96Val
NP_001374788.1:p.Met96Val
NP_077279.1:p.Met96Val
NP_001308991.2:p.Met96Val
NP_001308990.2:p.Met96Val
More...
04/23/2024
intron variant
uncertain significance
AllHighlyPenetrant
Variant Details
.
Variant Samples
1 to 1 of 1 rows
10
20
30
40
100
All Rows
ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Additional Information
External Database Links
1 to 3 of 3 rows
3
5
10
20
40
100
All Rows
Database
Acc Id
Source(s)
ClinVar
RCV004603878
CLINVAR
MedGen
CN169374
CLINVAR
NCBI Gene
ZSCAN5A
CLINVAR
1 to 3 of 3 rows
3
5
10
20
40
100
All Rows