ClinVar

NM_144596.4(TTC8):c.1491C>T (p.Asp497=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 88877353 (on Assembly GRCh38)
• Chr14: 89343697 (on Assembly GRCh37)

Preferred name:

NM_144596.4(TTC8):c.1491C>T (p.Asp497=)

HGVS:

• NC_000014.9:g.88877353C>T
• NG_008126.2:g.58201C>T
• NM_001288781.1:c.1539C>T
• NM_001288782.1:c.897C>T
• NM_001288783.1:c.774C>T
• NM_001366535.2:c.1377C>T
• NM_001366536.2:c.1287C>T
• NM_144596.4:c.1491C>TMANE SELECT
• NM_198309.3:c.1461C>T
• NM_198310.3:c.1371C>T
• NP_001275710.1:p.Asp513=
• NP_001275711.1:p.Asp299=
• NP_001275712.1:p.Asp258=
• NP_001353464.1:p.Asp459=
• NP_001353465.1:p.Asp429=
• NP_653197.2:p.Asp497=
• NP_938051.1:p.Asp487=
• NP_938052.1:p.Asp457=
• NC_000014.8:g.89343697C>T
• NG_008126.1:g.57720C>T
• NM_198309.2:c.1461C>T
• NR_159362.2:n.1578C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886050878

NCBI 1000 Genomes Browser:

rs886050878

Molecular consequence:

• NR_159362.2:n.1578C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001288781.1:c.1539C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288782.1:c.897C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288783.1:c.774C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366535.2:c.1377C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366536.2:c.1287C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144596.4:c.1491C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198309.3:c.1461C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198310.3:c.1371C>T - synonymous variant - [Sequence Ontology: SO:0001819]