ClinVar

NM_033163.5(FGF8):c.126T>C (p.Ala42=)

Gene:

FGF8:fibroblast growth factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 101775160 (on Assembly GRCh38)
• Chr10: 103534917 (on Assembly GRCh37)

Preferred name:

NM_033163.5(FGF8):c.126T>C (p.Ala42=)

HGVS:

• NC_000010.11:g.101775160A>G
• NG_007151.1:g.5911T>C
• NM_001206389.2:c.-123-281T>C
• NM_006119.6:c.70-248T>C
• NM_033163.5:c.126T>CMANE SELECT
• NM_033164.4:c.126T>C
• NM_033165.5:c.70-281T>C
• NP_149353.1:p.Ala42=
• NP_149354.1:p.Ala42=
• NC_000010.10:g.103534917A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs746259048

NCBI 1000 Genomes Browser:

rs746259048

Molecular consequence:

• NM_001206389.2:c.-123-281T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006119.6:c.70-248T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_033165.5:c.70-281T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_033163.5:c.126T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033164.4:c.126T>C - synonymous variant - [Sequence Ontology: SO:0001819]