ClinVar

NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)

Genes:

LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10073359 (on Assembly GRCh38)
• Chr3: 10115043 (on Assembly GRCh37)

Preferred name:

NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)

Other names:

NP_001018125.1:p.Asn904=

HGVS:

• NC_000003.12:g.10073359C>T
• NG_007311.1:g.51931C>T
• NG_046754.1:g.42513C>T
• NM_001018115.3:c.2712C>TMANE SELECT
• NM_001319984.2:c.2712C>T
• NM_001374253.1:c.2601C>T
• NM_001374254.1:c.2712C>T
• NM_033084.6:c.2712C>T
• NP_001018125.1:p.Asn904=
• NP_001306913.1:p.Asn904=
• NP_001361182.1:p.Asn867=
• NP_001361183.1:p.Asn904=
• NP_149075.2:p.Asn904=
• LRG_306t1:c.2712C>T
• LRG_306t2:c.2712C>T
• LRG_306:g.51931C>T
• NC_000003.11:g.10115043C>T
• NM_001018115.1:c.2712C>T
• NM_033084.3:c.2712C>T
• NM_033084.4:c.2712C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35594075

NCBI 1000 Genomes Browser:

rs35594075

Molecular consequence:

• NM_001018115.3:c.2712C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319984.2:c.2712C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374253.1:c.2601C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374254.1:c.2712C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033084.6:c.2712C>T - synonymous variant - [Sequence Ontology: SO:0001819]