RGD:21074789 Rat Genome Database

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Variant: RGD:21074789 -  Homo sapiens

RGD ID: 21074789
RS ID: rs1595795343
ClinVar ID: CV798686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLDN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 51,633,967
GRCh38 15 51,341,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181789.4:c.86T>C
NG_007982.1:g.1829A>G
NG_054933.1:g.5255T>C
NC_000015.10:g.51341770T>C
More... 		06/11/2019 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLDN
Accession:NM_181789
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGAEGGRGDAGWGLRGALAAVALLSAPNAAGTVFALCQWRGLSSALRALEAQRGREQREDSALRSFLAELSRAPRGAS
APPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDG
QPGPQGPKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGP
PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQAESMITSIGNPVQVLKVTETF
GTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQET
SQTLKLENALYFDRKYLFANSKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARG
ILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLYPVQFLSTTLNQ*

Gene Symbol:GLDN
Accession:XM_017022121
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGAEGGRGDAGWGLRGALAAVALLSAPNAAGTVFALCQWRGLSSALRALEAQRGREQREDSALRSFLAELSRAPRGAS
APPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPPGAGGLPGHNGLDGQPGPQG
PKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGPPGPPGP
PGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQAESMITSIGNPVQVLKVTETFGTWIRE
SANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKL
ENALYFDRKYLFANSKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARGILYVTD
TKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLYPVQFLSTTLNQ*

Gene Symbol:GLDN
Accession:XM_017022125
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGAEGGRGDAGWGLRGALAAVALLSAPNAAGTVFALCQWRGLSSALRALEAQRGREQREDSALRSFLAELSRAPRGAS
APPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDG
QPGPQGPKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGP
PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQAESMITSIGNPVQVLKVTETF
GTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRAFLKTNF
LEGGGARW*

Gene Symbol:GLDN
Accession:XM_017022124
Location:INTRON

Gene Symbol:GLDN
Accession:XM_047432432
Location:INTRON

Gene Symbol:GLDN
Accession:NM_001330297
Location:INTRON

Gene Symbol:GLDN
Accession:XM_017022126
Location:INTRON

Gene Symbol:GLDN
Accession:XM_047432431
Location:INTRON

Gene Symbol:GLDN
Accession:XM_011521501
Location:INTRON

Gene Symbol:GLDN
Accession:XM_017022122
Location:INTRON

Gene Symbol:GLDN
Accession:XM_047432433
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000995555 CLINVAR
dbSNP (RS) rs1595795343 CLINVAR
MedGen C4310670 CLINVAR
NCBI Gene GLDN CLINVAR
OMIM 608603 CLINVAR
  617194 CLINVAR