chr8:38282176:C>T Detail (hg19) (FGFR1)

Information

Genome

Assembly Position
hg19 chr8:38,282,176-38,282,176
hg38 chr8:38,424,658-38,424,658 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_023106.2:c.514G>A NP_075594.1:p.Ala172Thr
NM_001174065.1:c.781G>A NP_001167536.1:p.Ala261Thr
NM_001174066.1:c.781G>A NP_001167537.1:p.Ala261Thr
Summary

MGeND

Clinical significance not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 136350 OMIM
HGNC 3688 HGNC
Ensembl ENSG00000077782 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-01-13 criteria provided, single submitter Craniosynostosis syndrome germline Detail
Likely benign 2018-01-13 criteria provided, single submitter hypogonadotropic hypogonadism 2 with or without anosmia germline Detail
Benign 2018-01-13 criteria provided, single submitter Trigonocephaly 1 germline Detail
Benign 2018-01-13 criteria provided, single submitter osteoglophonic dysplasia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Craniosynostosis syndrome ClinVar Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Hypogonadotropic hypogonadism 2 with or without anosmi... ClinVar Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Trigonocephaly 1 ClinVar Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Osteoglophonic dysplasia ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs747978107 dbSNP
Genome
hg19
Position
chr8:38,282,176-38,282,176
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120526
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.489089491064169E-5
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