ClinVar

NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)

Gene:

TTC8:tetratricopeptide repeat domain 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 88841173 (on Assembly GRCh38)
• Chr14: 89307517 (on Assembly GRCh37)

Preferred name:

NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)

HGVS:

• NC_000014.9:g.88841173G>A
• NG_008126.2:g.22021G>A
• NM_001288781.1:c.436G>A
• NM_001288782.1:c.-127G>A
• NM_001288783.1:c.-222G>A
• NM_001366535.2:c.436G>A
• NM_001366536.2:c.436G>A
• NM_144596.3:c.466G>A
• NM_144596.4:c.466G>AMANE SELECT
• NM_198309.3:c.436G>A
• NM_198310.3:c.436G>A
• NP_001275710.1:p.Gly146Arg
• NP_001353464.1:p.Gly146Arg
• NP_001353465.1:p.Gly146Arg
• NP_653197.2:p.Gly156Arg
• NP_938051.1:p.Gly146Arg
• NP_938052.1:p.Gly146Arg
• NC_000014.8:g.89307517G>A
• NM_198309.2:c.436G>A
• NR_159362.2:n.493G>A

This HGVS expression did not pass validation

Protein change:

G146R

Links:

dbSNP: rs750521601

NCBI 1000 Genomes Browser:

rs750521601

Molecular consequence:

• NM_001288782.1:c.-127G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288783.1:c.-222G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288781.1:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366535.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366536.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_144596.4:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198309.3:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198310.3:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_159362.2:n.493G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]