ClinVar

NM_001378030.1(CCDC78):c.1056C>T (p.His352=)

Gene:

CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 723934 (on Assembly GRCh38)
• Chr16: 773934 (on Assembly GRCh37)

Preferred name:

NM_001378030.1(CCDC78):c.1056C>T (p.His352=)

HGVS:

• NC_000016.10:g.723934G>A
• NG_032932.1:g.7540C>T
• NM_001031737.3:c.1056C>T
• NM_001378030.1:c.1056C>TMANE SELECT
• NM_001378031.1:c.953+388C>T
• NM_001378033.1:c.489C>T
• NP_001026907.2:p.His352=
• NP_001364959.1:p.His352=
• NP_001364962.1:p.His163=
• LRG_705t1:c.1056C>T
• LRG_705t2:c.1056C>T
• LRG_705:g.7540C>T
• LRG_705p1:p.His352=
• LRG_705p2:p.His352=
• NC_000016.9:g.773934G>A
• NR_165382.1:n.1613C>T
• NR_165383.1:n.1259C>T
• NR_165384.1:n.1224C>T
• NR_165385.1:n.1324C>T
• NR_165386.1:n.1391C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs371958189

NCBI 1000 Genomes Browser:

rs371958189

Molecular consequence:

• NM_001378031.1:c.953+388C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_165382.1:n.1613C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165383.1:n.1259C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165384.1:n.1224C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165385.1:n.1324C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165386.1:n.1391C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001031737.3:c.1056C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378030.1:c.1056C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378033.1:c.489C>T - synonymous variant - [Sequence Ontology: SO:0001819]