ClinVar

NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)

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: 89739167 (on Assembly GRCh38)
• Chr16: 89805575 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)

HGVS:

• NC_000016.10:g.89739167G>A
• NG_011706.1:g.82491C>T
• NM_000135.4:c.4133C>TMANE SELECT
• NM_001113525.2:c.*921G>AMANE SELECT
• NM_001286167.3:c.4133C>T
• NM_152287.4:c.*921G>A
• NP_000126.2:p.Pro1378Leu
• NP_000126.2:p.Pro1378Leu
• NP_001273096.1:p.Pro1378Leu
• LRG_495t1:c.4133C>T
• LRG_495:g.82491C>T
• LRG_495p1:p.Pro1378Leu
• NC_000016.9:g.89805575G>A
• NM_000135.2:c.4133C>T
• NR_110122.2:n.2921G>A
• NR_110126.2:n.2804G>A
• NR_110128.2:n.2744G>A
• NR_110129.2:n.2838G>A

This HGVS expression did not pass validation

Protein change:

P1378L

Links:

dbSNP: rs760814763

NCBI 1000 Genomes Browser:

rs760814763

Molecular consequence:

• NM_001113525.2:c.*921G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*921G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4133C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.4133C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_110122.2:n.2921G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2804G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2744G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2838G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]