ClinVar

NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47073789 (on Assembly GRCh38)
• Chr2: 47300928 (on Assembly GRCh37)

Preferred name:

NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser)

HGVS:

• NC_000002.12:g.47073789G>T
• NG_034143.2:g.162661G>T
• NM_001288951.2:c.2515G>T
• NM_001288953.2:c.2341G>T
• NM_001288955.2:c.1381G>T
• NM_020458.4:c.2443G>TMANE SELECT
• NP_001275880.1:p.Ala839Ser
• NP_001275882.1:p.Ala781Ser
• NP_001275884.1:p.Ala461Ser
• NP_065191.2:p.Ala815Ser
• LRG_1323t1:c.2443G>T
• LRG_1323:g.162661G>T
• LRG_1323p1:p.Ala815Ser
• NC_000002.11:g.47300928G>T
• NG_034143.1:g.162661G>T
• NM_020458.3:c.2443G>T

This HGVS expression did not pass validation

Protein change:

A461S

Links:

dbSNP: rs779096998

NCBI 1000 Genomes Browser:

rs779096998

Molecular consequence:

• NM_001288951.2:c.2515G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288953.2:c.2341G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288955.2:c.1381G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020458.4:c.2443G>T - missense variant - [Sequence Ontology: SO:0001583]