chr4:1806163:A>C Detail (hg38) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,807,890-1,807,890 View the variant detail on this assembly version. |
hg38 | chr4:1,806,163-1,806,163 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.1955A>C | NP_001156685.1:p.Lys652Thr |
NM_022965.3:c.1937A>C | NP_075254.1:p.Lys646Thr | |
NM_000142.4:c.1949A>C | NP_000133.1:p.Lys650Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | hypochondroplasia |
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Detail | |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
![]() |
Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
![]() |
Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
![]() |
Detail |
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2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
![]() |
Detail |
![]() |
2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
![]() |
Detail |
![]() |
2018-10-31 | criteria provided, single submitter | Levy-Hollister syndrome,Malignant tumor of testis,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,hypochondroplasia,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia type 1,achondroplasia,Thanatophoric dysplasia, type 2,cervical cancer |
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Detail |
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2023-08-16 | criteria provided, multiple submitters, no conflicts | FGFR3-related disorder |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | NA | CLINVAR | Detail | |
<0.001 | Developmental delay (disorder) | We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... | BeFree | 10377013 | Detail |
0.002 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.495 | Hypochondroplasia (disorder) | NA | CLINVAR | Detail | |
0.442 | Thanatophoric dysplasia, type 2 | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone... | BeFree | 10377013 | Detail |
0.621 | achondroplasia | We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... | BeFree | 10377013 | Detail |
0.150 | thanatophoric dysplasia | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
<0.001 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.002 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)... | BeFree | 10377013 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.007 | Skeletal dysplasia | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.621 | achondroplasia | We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... | BeFree | 10053006 | Detail |
0.007 | Skeletal dysplasia | A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... | BeFree | 10053006 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Prenatal and postnatal presentation of severe achondroplasia with developmental ... | BeFree | 18076102 | Detail |
<0.001 | Developmental delay (disorder) | We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... | BeFree | 10053006 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.014 | acanthosis nigricans | A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... | BeFree | 10053006 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND Hypochondroplasia | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND FGFR3-related disorder | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approac... | DisGeNET | Detail |
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysi... | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... | DisGeNET | Detail |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... | DisGeNET | Detail |
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis... | DisGeNET | Detail |
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... | DisGeNET | 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
- rs121913105 dbSNP
- Genome
- hg38
- Position
- chr4:1,806,163-1,806,163
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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