ClinVar

NM_000135.4(FANCA):c.4167+46C>T

Genes:

FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89739087 (on Assembly GRCh38)
• Chr16: 89805495 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4167+46C>T

HGVS:

• NC_000016.10:g.89739087G>A
• NG_011706.1:g.82571C>T
• NM_000135.4:c.4167+46C>TMANE SELECT
• NM_001113525.2:c.*841G>AMANE SELECT
• NM_001286167.3:c.4171+42C>T
• NM_152287.4:c.*841G>A
• LRG_495t1:c.4167+46C>T
• LRG_495:g.82571C>T
• NC_000016.9:g.89805495G>A
• NM_000135.2:c.4167+46C>T
• NR_110122.2:n.2841G>A
• NR_110126.2:n.2724G>A
• NR_110128.2:n.2664G>A
• NR_110129.2:n.2758G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs191404781

NCBI 1000 Genomes Browser:

rs191404781

Molecular consequence:

• NM_001113525.2:c.*841G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*841G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4167+46C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286167.3:c.4171+42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_110122.2:n.2841G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2724G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2664G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2758G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]