ClinVar

NM_014967.5(FAN1):c.1851C>T (p.Ser617=)

Gene:

FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

• Chr15: 30918203 (on Assembly GRCh38)
• Chr15: 31210406 (on Assembly GRCh37)

Preferred name:

NM_014967.5(FAN1):c.1851C>T (p.Ser617=)

HGVS:

• NC_000015.10:g.30918203C>T
• NG_032946.2:g.19352C>T
• NM_014967.5:c.1851C>TMANE SELECT
• NP_055782.3:p.Ser617=
• NC_000015.9:g.31210406C>T
• NM_014967.4:c.1851C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs118060760

NCBI 1000 Genomes Browser:

rs118060760

Molecular consequence:

• NM_014967.5:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]