RGD:10401350 Rat Genome Database

Variant: RGD:10401350 - Homo sapiens

RGD ID:

10401350

RS ID:

rs768825050

ClinVar ID:

CV205036

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

XRCC4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	82,500,668
GRCh38	5	83,204,849

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000005.10:g.83204849C>T NC_000005.9:g.82500668C>T NP_071801.1:p.Arg225Ter NM_001318013.2:c.673C>T More...	09/03/2015	nonsense	pathogenic	childhood	<1 / 1 000 000

Disease Annotations Click to see Annotation Detail View

SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	XRCC4
Accession:	NM_001318013
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKGRKKETSEKEAV

Gene Symbol:	XRCC4
Accession:	XM_047417698
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASEKRSYLYIHSQER

Gene Symbol:	XRCC4
Accession:	XM_047417696
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKGRKKETSEKEAV

Gene Symbol:	XRCC4
Accession:	XM_017009827
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKFPNTPILQAVDLEL

Gene Symbol:	XRCC4
Accession:	XM_011543626
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSRPDSSLPETSKKEHISAENMS LETLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	NM_001318012
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSRPDSSLPETSKKEHISAENMS LETLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	XM_047417695
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKFPNTPILQAVDLEL

Gene Symbol:	XRCC4
Accession:	XM_047417694
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKPDSSLPETSKKEHISAENMSLE TLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	NM_022550
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKPDSSLPETSKKEHISAENMSLE TLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	NM_022406
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSRPDSSLPETSKKEHISAENMS LETLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	XM_047417697
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKKIRKPTETKE

Gene Symbol:	XRCC4
Accession:	NM_003401
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKPDSSLPETSKKEHISAENMSLE TLRNSSPEDLFDEI

Gene Symbol:	XRCC4
Accession:	XM_017009828
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLSGAGP ADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKEKKIRKPTETKE

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18695064	PMID:25728776	PMID:25872942	PMID:26255102

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000190525	CLINVAR
dbSNP (RS)	rs768825050	CLINVAR
MedGen	C4225288	CLINVAR
NCBI Gene	XRCC4	CLINVAR
OMIM	194363	CLINVAR
	616541	CLINVAR
OMIM Allele	194363.0005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:10401350 - Homo sapiens

Imported Disease Annotations - ClinVar