ClinVar

NM_000135.4(FANCA):c.4167+4G>A

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: 89739129 (on Assembly GRCh38)
• Chr16: 89805537 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4167+4G>A

HGVS:

• NC_000016.10:g.89739129C>T
• NG_011706.1:g.82529G>A
• NM_000135.4:c.4167+4G>AMANE SELECT
• NM_001113525.2:c.*883C>TMANE SELECT
• NM_001286167.3:c.4171G>A
• NM_152287.4:c.*883C>T
• NP_001273096.1:p.Gly1391Arg
• LRG_495t1:c.4167+4G>A
• LRG_495:g.82529G>A
• NC_000016.9:g.89805537C>T
• NC_000016.9:g.89805537C>T
• NM_000135.2:c.4167+4G>A
• NR_110122.2:n.2883C>T
• NR_110126.2:n.2766C>T
• NR_110128.2:n.2706C>T
• NR_110129.2:n.2800C>T

This HGVS expression did not pass validation

Protein change:

G1391R

Links:

dbSNP: rs370080063

NCBI 1000 Genomes Browser:

rs370080063

Molecular consequence:

• NM_001113525.2:c.*883C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*883C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4167+4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286167.3:c.4171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110122.2:n.2883C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2766C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2706C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2800C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]