ClinVar

NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)

Gene:

TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47073830 (on Assembly GRCh38)
• Chr2: 47300969 (on Assembly GRCh37)

Preferred name:

NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)

HGVS:

• NC_000002.12:g.47073830G>C
• NG_034143.2:g.162702G>C
• NM_001288951.2:c.2556G>C
• NM_001288953.2:c.2382G>C
• NM_001288955.2:c.1422G>C
• NM_020458.2:c.2484G>C
• NM_020458.4:c.2484G>CMANE SELECT
• NP_001275880.1:p.Gln852His
• NP_001275882.1:p.Gln794His
• NP_001275884.1:p.Gln474His
• NP_065191.2:p.Gln828His
• LRG_1323t1:c.2484G>C
• LRG_1323:g.162702G>C
• LRG_1323p1:p.Gln828His
• NC_000002.11:g.47300969G>C
• NG_034143.1:g.162702G>C
• NM_020458.3:c.2484G>C

This HGVS expression did not pass validation

Protein change:

Q474H

Links:

dbSNP: rs151032299

NCBI 1000 Genomes Browser:

rs151032299

Molecular consequence:

• NM_001288951.2:c.2556G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288953.2:c.2382G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288955.2:c.1422G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020458.4:c.2484G>C - missense variant - [Sequence Ontology: SO:0001583]