RGD:11630500 Rat Genome Database

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Variant: RGD:11630500 -  Homo sapiens

RGD ID: 11630500
RS ID: rs139865555
ClinVar ID: CV346551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,815,510
GRCh38 21 42,395,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.42395401G>A
NC_000021.8:g.43815510G>A
NP_076927.1:p.Pro6Leu
NM_032405.2:c.17C>T
More...
01/13/2018 missense variant uncertain significance Deafness, autosomal recessive 10; Deafness, autosomal recessive 8; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMPRSS3
Accession:NM_024022
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGENDLPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCR
SSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSS
LEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH
LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMI
QPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGD
SGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT*

Gene Symbol:TMPRSS3
Accession:NM_032405
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGENDLPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCR
SSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSS
LEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH
LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNGTS
GSLCGSAALPLFQEDLQLLIEAFL*

Gene Symbol:TMPRSS3
Accession:NM_001256317
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGENDLPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCR
SSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSS
LEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH
LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMI
QPVCLPNSEENFPDGKVCWTSGWGATEDGGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDS
GGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT*

Gene Symbol:TMPRSS3
Accession:NM_032404
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351136 CLINVAR
dbSNP (RS) rs139865555 CLINVAR
MedGen C1832827 CLINVAR
NCBI Gene TMPRSS3 CLINVAR
OMIM 601072 CLINVAR
  605316 CLINVAR
  605511 CLINVAR