ClinVar

NM_012162.4(FBXL6):c.157G>A (p.Gly53Ser)

Genes:

LOC130001388:ATAC-STARR-seq lymphoblastoid silent region 19676 [Gene]
FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 144358291 (on Assembly GRCh38)
• Chr8: 145581951 (on Assembly GRCh37)

Preferred name:

NM_012162.4(FBXL6):c.157G>A (p.Gly53Ser)

HGVS:

• NC_000008.11:g.144358291C>T
• NG_032872.2:g.4735C>T
• NM_012162.4:c.157G>AMANE SELECT
• NM_024555.6:c.157G>A
• NP_036294.2:p.Gly53Ser
• NP_078831.4:p.Gly53Ser
• NC_000008.10:g.145581951C>T
• NG_032872.1:g.4735C>T

This HGVS expression did not pass validation

Protein change:

G53S

Links:

dbSNP: rs782526479

NCBI 1000 Genomes Browser:

rs782526479

Molecular consequence:

• NM_012162.4:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024555.6:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1