RGD:8643615 Rat Genome Database

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Variant: RGD:8643615 -  Homo sapiens

RGD ID: 8643615
RS ID: rs431825177
ClinVar ID: CV102880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMELX  ARHGAP6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 11,316,384
GRCh38 X 11,298,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_182680.1:c.173G>A
NG_012040.1:g.9852G>A
NC_000023.11:g.11298264G>A
NC_000023.10:g.11316384G>A
More... 		intron|intron variant|missense variant not provided neonatal/infancy 1-9 / 100 000 AIH3 ( formerly); AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; Amelogenesis imperfecta 3, hypoplastic type (formerly); Enamel hypoplasia, X-linked

Variant Details
Variant Transcripts
Gene Symbol:AMELX
Accession:NM_182680
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRTALVLTPLKWYQNIRPPYPSYGYEPMGGWLHHQII
PVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPV
HPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWPSTDKTKREEVD*

Gene Symbol:AMELX
Accession:NM_182681
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPVLTPLKWYQNIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIP
QQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTL
EAWPSTDKTKREEVD*

Gene Symbol:AMELX
Accession:XM_017029404
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQNIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQ
PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP
MFPMQPLPPMLPDLTLEAWPSTDKTKREEVMLLWDYYPMESFTSSWLGSYLASSSRHETQSLKYTHRIFLPLQGSYTSAI
AAAPGSSEPPYSPRRAPVQCGNREGDRRQGGTLLKVLEEPARQSPCLECTTRGSRRERALGHCDPLSQTPWGALSSESPP
QAQKAESPQAPTRKKSVKVKKLKS*

Gene Symbol:AMELX
Accession:NM_001142
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQNIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQ
PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP
MFPMQPLPPMLPDLTLEAWPSTDKTKREEVD*

Gene Symbol:ARHGAP6
Accession:NM_006125
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_013423
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_001287242
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_013427
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NR_109776
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000083241 CLINVAR
dbSNP (RS) rs431825177 CLINVAR
MedGen C1845051 CLINVAR
NCBI Gene AMELX CLINVAR
  ARHGAP6 CLINVAR
OMIM 300118 CLINVAR
  300391 CLINVAR
  301201 CLINVAR