RGD:10056028 Rat Genome Database

RGD:10056028 Rat Genome Database

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Variant: RGD:10056028 - Homo sapiens

RGD ID:

10056028

ClinVar ID:

CV198650

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

SSR4

Reference Nucleotide:

AG

Variant Nucleotide:

--

Position

Assembly	Chr	Position
GRCh37	X	153,063,530 - 153,063,532
GRCh38	X	153,798,075 - 153,798,077

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
NM_001204527.1:c.380_381delAG NG_041795.1:g.8901_8902delAG NC_000023.11:g.153798075_153798076delAG NW_003871103.3:g.1232058_1232059delAG More...	12/12/2013	frameshift variant	likely pathogenic	infancy\|neonatal	<1 / 1 000 000	CDG IY

Variant Details

Variant Transcripts

Gene Symbol:	SSR4
Accession:	XM_047442389
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTESESLRTSRHADTALARVRRGREEAMAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEI SLTCKNRVQNMALYADVGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFT VSVDHRGTWNGPWVSTEVLAAAIGLVIYYLAFSAKSHIQA*

Gene Symbol:	SSR4
Accession:	NM_006280
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	119

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNRVQNMALYADVGGKQFPVTRG QDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVI YYLAFSAKSHIQA*

Gene Symbol:	SSR4
Accession:	NM_001204526
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	130

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPAQPFGREEAMAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNRVQNMALYAD VGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVST EVLAAAIGLVIYYLAFSAKSHIQA*

Gene Symbol:	SSR4
Accession:	XM_047442390
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	119

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNRVQNMALYADVGGKQFPVTRG QDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVI YYLAFSAKSHIQA*

Gene Symbol:	SSR4
Accession:	NM_001204527
Location:	EXON
Amino Acid Prediction:	Q to Q (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTESREEAMAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNRVQNMALYADVGG KQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVSTEVL AAAIGLVIYYLAFSAKSHIQA*

Gene Symbol:	SSR4
Accession:	NR_037927
Location:	EXON;NON-CODING

Variant Samples