ClinVar

NM_033163.5(FGF8):c.157-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 101774913 (on Assembly GRCh38)
• Chr10: 103534670 (on Assembly GRCh37)

Preferred name:

NM_033163.5(FGF8):c.157-1G>A

HGVS:

• NC_000010.11:g.101774913C>T
• NG_007151.1:g.6158G>A
• NG_120485.1:g.733C>T
• NM_001206389.2:c.-123-34G>A
• NM_006119.6:c.70-1G>A
• NM_033163.5:c.157-1G>AMANE SELECT
• NM_033164.4:c.157-34G>A
• NM_033165.5:c.70-34G>A
• NC_000010.10:g.103534670C>T
• NM_033163.3:c.157-1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1554834892

NCBI 1000 Genomes Browser:

rs1554834892

Molecular consequence:

• NM_001206389.2:c.-123-34G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033164.4:c.157-34G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033165.5:c.70-34G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006119.6:c.70-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_033163.5:c.157-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

Variation affecting splicing function of RNA [Variation Ontology: 0397]