ClinVar

NM_001329998.2(TRANK1):c.7569G>C (p.Arg2523=)

Gene:

TRANK1:tetratricopeptide repeat and ankyrin repeat containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36832014 (on Assembly GRCh38)
• Chr3: 36873505 (on Assembly GRCh37)

Preferred name:

NM_001329998.2(TRANK1):c.7569G>C (p.Arg2523=)

HGVS:

• NC_000003.12:g.36832014C>G
• NM_001329998.2:c.7569G>CMANE SELECT
• NM_014831.3:c.7437G>C
• NP_001316927.1:p.Arg2523=
• NP_055646.2:p.Arg2479=
• NC_000003.11:g.36873505C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001329998.2:c.7569G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014831.3:c.7437G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1