chr4:1808988:G>T Detail (hg19) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,808,988-1,808,988 |
hg38 | chr4:1,807,261-1,807,261 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.2426G>T | NP_001156685.1:p.Ter809Leuext*? |
NM_022965.3:c.2408G>T | NP_075254.1:p.Ter803Leuext*? | |
NM_000142.4:c.2420G>T | NP_000133.1:p.Ter807Leuext*? |
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 | Thanatophoric dysplasia type 1 |
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Detail | |
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2022-08-08 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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Detail |
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2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
![]() |
Detail |
![]() |
2022-02-14 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome,Germ cell tumor of testis,achondroplasia,hypochondroplasia,Malignant tumor of urinary bladder,Crouzon syndrome-acanthosis nigricans syndrome,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Muenke Syndrome,cervical cancer,Thanatophoric dysplasia, type 2 |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND Thanatophoric dysplasia type 1 | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND not provided | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) AND multiple conditions | ClinVar | Detail |
NA | 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
- rs397515514 dbSNP
- Genome
- hg19
- Position
- chr4:1,808,988-1,808,988
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser