RGD:156029124 Rat Genome Database

RGD:156029124 Rat Genome Database

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Variant: RGD:156029124 - Homo sapiens

RGD ID:

156029124

ClinVar ID:

CV2238287

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARPC4-TTLL3 TTLL3

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	9,876,538
GRCh38	3	9,834,854

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387448.1:c.33C>T NM_001387450.1:c.33C>T NM_001387454.1:c.33C>T NM_001387455.1:c.33C>T More...	09/16/2021	3 prime utr variant	likely benign	AllHighlyPenetrant

Gene Symbol:	TTLL3
Accession:	NM_001387463
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387455
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387461
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387462
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387454
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387450
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387467
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387466
Location:	3UTRS;EXON

Gene Symbol:	ARPC4-TTLL3
Accession:	NM_001198793
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387457
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387459
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387451
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387465
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387448
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387464
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387456
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387458
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387460
Location:	3UTRS;EXON

Gene Symbol:	TTLL3
Accession:	NM_001387449
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	624

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQ RGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSILKPR KVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001387447
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	708

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQE MGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPSTAVTARLCAGVQAD TLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEGKDSGTPT HRSASRKGTGARSLGHSEKPVSTATTSAPGKGKKGKAKRATALVCPNLWEWDAPSTRMGCIFTMTFSSGDRQPHHLNRLP LSPKNPRALARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSI LKPRKVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001387446
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	667

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDS YIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQ TSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYK QPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHS KLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPCCLCPLKSEQFLAPVGRSRPK ANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKLGKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSR VDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001387453
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	591

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSP EFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDM EGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWF YRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVI HALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFE LIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLR RQHSKLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSILKPRKVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001025930
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	767

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQGPDAPLLLSARELGPGRRGSASWYRQEGGAVCNWLRKPQPLEPRTSFPSARRSEFRPPRRLPWAGPASAQSEEGHAGG RCQAGSPAPARRLSGAFKTLVPGTHAQGASDTHPLGPPHTPVLDPSPQDGFPVLWRGSSKASHMNRLRNAKIYVERAVKQ KKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDD LDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASG DKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRC EDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDL RQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAP NAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPSTAVTARLCAGVQADTLRV VIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKA QLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPC CLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKLGKPLLRFPTALVLDPTP NKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001366051
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	624

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQ RGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISFPPNLDFKVAPSILKPR KAPALLCLRGPQLEVPCCLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKL GKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NR_170662
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170661
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170665
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170664
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_037162
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170663
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NM_001387452
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004113365	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ARPC4-TTLL3	CLINVAR
	TTLL3	CLINVAR
OMIM	619195	CLINVAR