RGD:156216689 Rat Genome Database

RGD:156216689 Rat Genome Database

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Variant: RGD:156216689 - Homo sapiens

RGD ID:

156216689

ClinVar ID:

CV1963350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	21	38,878,538
GRCh38	21	37,506,235

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009366.1:g.143680C>T NP_567824.1:p.His561= NM_130438.2:c.1546+646C>T NM_001347723.2:c.1557+12C>T More...	05/20/2023	intron variant	likely benign	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1963350	Human	autosomal dominant intellectual developmental disorder 7		IAGP		8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532

Gene Symbol:	DYRK1A
Accession:	NM_101395
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	561

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRR MPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYE IDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEM LSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQ YIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPD GTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFK KTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVSS HVVHLLVSPAILRWSSTGCQVPLE*

Gene Symbol:	DYRK1A
Accession:	NM_130436
Location:	INTRON

Gene Symbol:	DYRK1A
Accession:	NM_001347723
Location:	INTRON

Gene Symbol:	DYRK1A
Accession:	NM_130438
Location:	INTRON

Gene Symbol:	DYRK1A
Accession:	NM_001396
Location:	INTRON

Gene Symbol:	DYRK1A
Accession:	NM_001347721
Location:	INTRON

Gene Symbol:	DYRK1A
Accession:	NM_001347722
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002575358	CLINVAR
MedGen	C5568143	CLINVAR
NCBI Gene	DYRK1A	CLINVAR
OMIM	600855	CLINVAR
	614104	CLINVAR