RGD:243056758 Rat Genome Database

RGD:243056758 Rat Genome Database

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Variant: RGD:243056758 - Homo sapiens

RGD ID:

243056758

ClinVar ID:

CV2419401

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	19,043,832
GRCh38	19	18,933,023

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001145724.1:c.326G>A NM_001145721.1:c.434G>A NM_001145722.2:c.434G>A NG_033947.1:g.13210G>A More...	05/16/2024	missense variant	likely pathogenic\|uncertain significance	KTCN5

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2419401	Human	Keratoconus 5		IAGP		8554872	ClinVar Annotator: match by term: Keratoconus 5	ClinVar

Gene Symbol:	HOMER3
Accession:	NM_001145722
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAIINSTVTPNMTFTKTSQKFGQW ADSRANTVYGLGFASEQHLTQFAEKFQEVKEAARLAREKSQDGGELTSPALGLASHQVPPSPLVNANGPGEEKLFRSQSA DAPGPTERERLKKMLSEGSVGEVQWEAEFFALQDSNNKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAAS EVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKSQTGGPREALEAAEREETQQKVQDLETRNAELEHQLRAMERSLEE ARAERERARAEVGRAAQLLDVSLFELSELREGLARLAEAAP*

Gene Symbol:	HOMER3
Accession:	NM_001145724
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAIINSTVTPNMTFTKTSQKFGQW ADSRANTVYGLGFASEQHLTQVPPSPLVNANGPGEEKLFRSQSADAPGPTERERLKKMLSEGSVGEVQWEAEFFALQDSN NKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAASEVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKS QTGGPREALEAAEREETQQKVQDLETRNAELEHQLRAMERSLEEARAERERARAEVGRAAQLLDVSLFELSELREGLARL AEAAP*

Gene Symbol:	HOMER3
Accession:	XM_047439733
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAIINSTVTPNMTFTKTSQKFGQW ADSRANTVYGLGFASEQHLTQFAEKFQEVKEAARLAREKSQDGGELTSPALGLASHQVPPSPLVNANGPGEEKLFRSQSA DAPGPTERERLKKMLSEGSVGEVQWEAEFFALQDSNNKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAAS EVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKSQTGGPREALEAAEREETQQKVQDLETRNAELEHQLRAMERSLEE ARAERERARAEVGRAAQLLDVSLFELSELREGLARLAEAAP*

Gene Symbol:	HOMER3
Accession:	NM_004838
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAIINSTVTPNMTFTKTSQKFGQW ADSRANTVYGLGFASEQHLTQFAEKFQEVKEAARLAREKSQDGGELTSPALGLASHQVPPSPLVNANGPGEEKLFRSQSA DAPGPTERERLKKMLSEGSVGEVQWEAEFFALQDSNNKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAAS EVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKSQTGGPREALEAAEREETQQKVQDLETRNAELEHQLRAMERSLEE ARAERERARAEVGRAAQLLDVSLFELSELREGLARLAEAAP*

Gene Symbol:	HOMER3
Accession:	NM_001145721
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAIINSTVTPNMTFTKTSQKFGQW ADSRANTVYGLGFASEQHLTQFAEKFQEVKEAARLAREKSQDGGELTSPALGLASHQVPPSPLVNANGPGEEKLFRSQSA DAPGPTERERLKKMLSEGSVGEVQWEAEFFALQDSNNKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAAS EVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKSQTGGPREALEAAEREETQQKVQTRNAELEHQLRAMERSLEEARA ERERARAEVGRAAQLLDVSLFELSELREGLARLAEAAP*

Gene Symbol:	HOMER3
Accession:	NR_027297
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004572866	CLINVAR
MedGen	C3553302	CLINVAR
NCBI Gene	HOMER3	CLINVAR
OMIM	604800	CLINVAR
	614622	CLINVAR