RGD:127313404 Rat Genome Database

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Variant: RGD:127313404 -  Homo sapiens

RGD ID: 127313404
RS ID: rs750879802
ClinVar ID: CV1130240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCLRE1B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 114,454,207
GRCh38 1 113,911,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1219t1:c.993T>C
NM_001319946.2:c.615T>C
NM_001319947.2:c.615T>C
NM_001363691.2:c.615T>C
More... 		05/28/2019 synonymous variant likely benign Autosomal recessive dyskeratosis congenita; Cerebellar hypoplasia with pancytopenia; Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCLRE1B
Accession:NM_001319947
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQEAAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTWVVLSPR
RLELVQLLGLADVFTVEEKAGRIHAVDHMEICHSNMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFV
AALKPCQVVPIVSRRPCGGFQDSLSPRISVPLIPDSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQA
DRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQLFPDLYSKEWNKAVPFCESQKRVTMLTAPLGFSVHLRSTDEEFISQK
TREEIGLGSPLVPMGDDDGGPEATGNQSAWMGHGSPLSHSSKGTPLLATEFRGLALKYLLTPVNFFQAGYSSRRFDQQVE
KYHKPC*

Gene Symbol:DCLRE1B
Accession:NM_001363691
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQEAAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTWVVLSPR
RLELVQLLGLADVFTVEEKAGRIHAVDHMEICHSNMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFV
AALKPCQVVPIVSRRPCGGFQDSLSPRISVPLIPDSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQA
DRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQLFPDLYSKEWNKAVPFCRVFFQEI*

Gene Symbol:DCLRE1B
Accession:NM_001319946
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQEAAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTWVVLSPR
RLELVQLLGLADVFTVEEKAGRIHAVDHMEICHSNMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFV
AALKPCQVVPIVSRRPCGGFQDSLSPRISVPLIPDSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQA
DRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQLFPDLYSKEWNKAVPFCESQKRVTMLTAPLGFSVHLRSTDEEFISQK
TREEIGLGSPLVPMGDDDGGPEATGNQSAWMGHGSPLSHSSKGTPLLATEFRGLALKYLLTPVNFFQAGYSSRRFDQQVE
KYHKPC*

Gene Symbol:DCLRE1B
Accession:NM_022836
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGVLIPHTPIAVDFWSLRRAGTARLFFLSHMHSDHTVGLSSTWARPLYCSPITAHLLHRHLQVSKQWIQALEVGESHVL
PLDEIGQETMTVTLLDANHCPGSVMFLFEGYFGTILYTGDFRYTPSMLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQE
AAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTWVVLSPRRLELVQLLGLADVFTVEEKAGRIHAVDHMEICHS
NMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFVAALKPCQVVPIVSRRPCGGFQDSLSPRISVPLIP
DSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQADRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQL
FPDLYSKEWNKAVPFCESQKRVTMLTAPLGFSVHLRSTDEEFISQKTREEIGLGSPLVPMGDDDGGPEATGNQSAWMGHG
SPLSHSSKGTPLLATEFRGLALKYLLTPVNFFQAGYSSRRFDQQVEKYHKPC*

Gene Symbol:DCLRE1B
Accession:NM_001363690
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGVLIPHTPIAVDFWSLRRAGTARLFFLSHMHSDHTVGLSSTWARPLYCSPITAHLLHRHLQVSKQWIQALEVGESHVL
PLDEIGQETMTVTLLDANHCPGSVMFLFEGYFGTILYTGDFRYTPSMLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQE
AAHQIVQLIRKHPQHNIKIGLYSLGKESLLEQLALEFQTWVVLSPRRLELVQLLGLADVFTVEEKAGRIHAVDHMEICHS
NMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFVAALKPCQVVPIVSRRPCGGFQDSLSPRISVPLIP
DSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEESADQSQADRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQL
FPDLYSKEWNKAVPFCRVFFQEI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001481984 CLINVAR
dbSNP (RS) rs750879802 CLINVAR
MedGen C1846142 CLINVAR
NCBI Gene DCLRE1B CLINVAR
OMIM 609683 CLINVAR
SNOMED CT 707272006 CLINVAR