RGD:401740225 Rat Genome Database

RGD:401740225 Rat Genome Database

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Variant: RGD:401740225 - Homo sapiens

RGD ID:

401740225

ClinVar ID:

CV2684300

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	202,127,380
GRCh38	1	202,158,252

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000001.10:g.202127380C>T NM_002832.3:c.487G>A NP_001186726.1:p.Val132Ile NP_001351806.1:p.Val58Ile More...	03/28/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PTPN7
Accession:	XM_047426306
Location:	5UTRS;INTRON

Gene Symbol:	PTPN7
Accession:	NM_002832
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGH PLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDG KEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQY QEERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDIL GIVCQLRLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XM_011509820
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGVPWCEGQRLSTVSMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGHPLTRWA LQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDGKEKVYI ATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQEERRS VKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILGIVCQL RLDRLLERRKLEAQEYSWPDPRLQRSGFVPGAEWIKEDQVSTWGITPQHVGGMIQTAEQYQFLHHTLALYAGQLPEEPSP *

Gene Symbol:	PTPN7
Accession:	NM_001364878
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGH PLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDG KEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQY QEERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDIL GIVCQLRLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XM_047426296
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGVPWCEGQRLSTVSMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGHPLTRWA LQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDGKEKVYI ATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQEERRS VKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILGIVCQL RLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	NM_080588
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	97

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGASFWPIRQAREQQRRALSFRQTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQER RGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHAS KDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGK EKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQEERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETA AHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILGIVCQLRLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XM_011509819
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGKAWPLTHSQGTGPWAPEGHRREAADPWWQRQQAQEGRMQLGCAWVAARRGGGRKLASWSLLSPQRQTDRQTDSWQEA AWGPQLLQQTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSL GAIEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSR VCLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETY GPFQIRIQDMKECPEYTVRQLTIQYQEERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGI GRTGCFIATRIGCQQLKARGEVDILGIVCQLRLDRLLERRKLEAQEYSWPDPRLQRSGFVPGAEWIKEDQVSTWGITPQH VGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	NM_001364877
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGH PLTRWALQRQPPSPKQLEEEFLIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDGK EKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQ EERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILG IVCQLRLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XM_011509823
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGKAWPLTHSQGTGPWAPEGHRREAADPWWQRQQAQEGRMQLGCAWVAARRGGGRKLASWSLLSPQRQTDRQTDSWQEA AWGPQLLQQTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSL GAIEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSR VCLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKELPPS*

Gene Symbol:	PTPN7
Accession:	NM_001199797
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLGCWPARSLPRSGRGSGQRSLGLGGHPSGPRHPGTPAAKRTWESPGVRARDCPLSTSWLSEPPLGPAPHLSMVQAHG GRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSLGAIEPICSVNTPREVTLHFLRTAGHPLTRWA LQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRVCLGRAQSQEDGDYINANYIRGYDGKEKVYI ATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQEERRS VKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILGIVCQL RLDRGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XR_007062439
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	XR_921906
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	XM_047426297
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	XR_007062440
Location:	INTRON;NON-CODING

Gene Symbol:	PTPN7
Accession:	NR_037664
Location:	INTRON;NON-CODING

Gene Symbol:	PTPN7
Accession:	NR_037663
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004288955	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PTPN7	CLINVAR
OMIM	176889	CLINVAR