ClinVar

NM_001372044.2(SHANK3):c.1962-187G>T

Genes:

LOC126863188:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51142004-51143203 [Gene]
SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50704551 (on Assembly GRCh38)
• Chr22: 51142979 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.1962-187G>T

HGVS:

• NC_000022.11:g.50704551G>T
• NG_070230.1:g.40416G>T
• NM_001372044.2:c.1962-187G>TMANE SELECT
• NC_000022.10:g.51142979G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs73174414

NCBI 1000 Genomes Browser:

rs73174414

Molecular consequence:

• NM_001372044.2:c.1962-187G>T - intron variant - [Sequence Ontology: SO:0001627]