chr10:123279644:G>A Detail (hg19) (FGFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:123,279,644-123,279,644 |
hg38 | chr10:121,520,130-121,520,130 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001144917.1:c.788C>T | NP_001138389.1:p.Pro263Leu |
NM_001144914.1:c.749-4811C>T | ||
NM_001144913.1:c.788C>T | NP_001138385.1:p.Pro263Leu |
Summary
MGeND
Clinical significance |
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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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-06-29 | criteria provided, single submitter | FGFR2-related craniosynostosis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2022-03-24 | criteria provided, single submitter | Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Gastric cancer,Levy-Hollister syndrome,Crouzon syndrome,Acrocephalosyndactyly type I,Jackson-Weiss syndrome,Bent bone dysplasia syndrome 1,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND FGFR2-related craniosynostosis | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) AND multiple conditions | 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
- rs779326224 dbSNP
- Genome
- hg19
- Position
- chr10:123,279,644-123,279,644
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8494
- 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)
- 119266
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.384619254439656E-6
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