ClinVar

NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)

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: 89738943 (on Assembly GRCh38)
• Chr16: 89805351 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)

HGVS:

• NC_000016.10:g.89738943C>T
• NG_011706.1:g.82715G>A
• NM_000135.4:c.4199G>AMANE SELECT
• NM_001113525.2:c.*697C>TMANE SELECT
• NM_001286167.3:c.4203G>A
• NM_152287.4:c.*697C>T
• NP_000126.2:p.Arg1400His
• NP_000126.2:p.Arg1400His
• NP_001273096.1:p.Ser1401=
• LRG_495t1:c.4199G>A
• LRG_495:g.82715G>A
• LRG_495p1:p.Arg1400His
• NC_000016.9:g.89805351C>T
• NM_000135.2:c.4199G>A
• NR_110122.2:n.2697C>T
• NR_110126.2:n.2580C>T
• NR_110128.2:n.2520C>T
• NR_110129.2:n.2614C>T

This HGVS expression did not pass validation

Protein change:

R1400H

Links:

dbSNP: rs149851163

NCBI 1000 Genomes Browser:

rs149851163

Molecular consequence:

• NM_001113525.2:c.*697C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*697C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110122.2:n.2697C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2580C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2520C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2614C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001286167.3:c.4203G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

variation affecting protein function [Variation Ontology: 0003]